Canonical Allele Identifier: CA473298253
Gene: ABCC8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17395682_17395683insCGCGTCCCTCGCGGTAGAACTCGCTGCGGCTCATCTCGGCGCCGCCCAGGCGGCCGGAGCACTGCACCCG , CM000673.2:g.17395682_17395683insCGCGTCCCTCGCGGTAGAACTCGCTGCGGCTCATCTCGGCGCCGCCCAGGCGGCCGGAGCACTGCACCCG GRCh38
NC_000011.9:g.17417229_17417230insCGCGTCCCTCGCGGTAGAACTCGCTGCGGCTCATCTCGGCGCCGCCCAGGCGGCCGGAGCACTGCACCCG , CM000673.1:g.17417229_17417230insCGCGTCCCTCGCGGTAGAACTCGCTGCGGCTCATCTCGGCGCCGCCCAGGCGGCCGGAGCACTGCACCCG GRCh37
NC_000011.8:g.17373805_17373806insCGCGTCCCTCGCGGTAGAACTCGCTGCGGCTCATCTCGGCGCCGCCCAGGCGGCCGGAGCACTGCACCCG NCBI36
NG_008867.1:g.86220_86221insCGGGTGCAGTGCTCCGGCCGCCTGGGCGGCGCCGAGATGAGCCGCAGCGAGTTCTACCGCGAGGGACGCG

Transcript Alleles

HGVS Amino-acid Change
ENST00000524561.2:n.3835_3836insCGGGTGCAGTGCTCCGGCCGCCTGGGCGGCGCCGAGATGAGCCGCAGCGAGTTCTACCGCGAGGGACGCG
ENST00000528374.2:c.825_826insCGGGTGCAGTGCTCCGGCCGCCTGGGCGGCGCCGAGATGAGCCGCAGCGAGTTCTACCGCGAGGGACGCG
ENST00000529967.6:n.2573_2574insCGGGTGCAGTGCTCCGGCCGCCTGGGCGGCGCCGAGATGAGCCGCAGCGAGTTCTACCGCGAGGGACGCG
ENST00000532220.2:n.3467_3468insCGGGTGCAGTGCTCCGGCCGCCTGGGCGGCGCCGAGATGAGCCGCAGCGAGTTCTACCGCGAGGGACGCG
ENST00000642611.2:n.5567_5568insCGGGTGCAGTGCTCCGGCCGCCTGGGCGGCGCCGAGATGAGCCGCAGCGAGTTCTACCGCGAGGGACGCG
ENST00000644057.2:n.810_811insCGGGTGCAGTGCTCCGGCCGCCTGGGCGGCGCCGAGATGAGCCGCAGCGAGTTCTACCGCGAGGGACGCG
ENST00000645004.2:n.1733_1734insCGGGTGCAGTGCTCCGGCCGCCTGGGCGGCGCCGAGATGAGCCGCAGCGAGTTCTACCGCGAGGGACGCG
ENST00000682051.1:n.4396_4397insCGGGTGCAGTGCTCCGGCCGCCTGGGCGGCGCCGAGATGAGCCGCAGCGAGTTCTACCGCGAGGGACGCG
ENST00000682110.1:n.4449_4450insCGGGTGCAGTGCTCCGGCCGCCTGGGCGGCGCCGAGATGAGCCGCAGCGAGTTCTACCGCGAGGGACGCG
ENST00000682140.1:c.*20_*21insCGGGTGCAGTGCTCCGGCCGCCTGGGCGGCGCCGAGATGAGCCGCAGCGAGTTCTACCGCGAGGGACGCG ENSP00000507829.1:n.*20_*21insCGGGTGCAGTGCTCCGGCCGCCTGGGCGGCG...
ENST00000682185.1:n.5539_5540insCGGGTGCAGTGCTCCGGCCGCCTGGGCGGCGCCGAGATGAGCCGCAGCGAGTTCTACCGCGAGGGACGCG
ENST00000682204.1:c.*2372_*2373insCGGGTGCAGTGCTCCGGCCGCCTGGGCGGCGCCGAGATGAGCCGCAGCGAGTTCTACCGCGAGGGACGCG ENSP00000507094.1:n.*2372_*2373insCGGGTGCAGTGCTCCGGCCGCCTGGGC...
ENST00000682215.1:n.4816_4817insCGGGTGCAGTGCTCCGGCCGCCTGGGCGGCGCCGAGATGAGCCGCAGCGAGTTCTACCGCGAGGGACGCG
ENST00000682288.1:c.*2665_*2666insCGGGTGCAGTGCTCCGGCCGCCTGGGCGGCGCCGAGATGAGCCGCAGCGAGTTCTACCGCGAGGGACGCG ENSP00000507506.1:n.*2665_*2666insCGGGTGCAGTGCTCCGGCCGCCTGGGC...
ENST00000682442.1:n.4669_4670insCGGGTGCAGTGCTCCGGCCGCCTGGGCGGCGCCGAGATGAGCCGCAGCGAGTTCTACCGCGAGGGACGCG
ENST00000682528.1:n.4526_4527insCGGGTGCAGTGCTCCGGCCGCCTGGGCGGCGCCGAGATGAGCCGCAGCGAGTTCTACCGCGAGGGACGCG
ENST00000682673.1:n.4393_4394insCGGGTGCAGTGCTCCGGCCGCCTGGGCGGCGCCGAGATGAGCCGCAGCGAGTTCTACCGCGAGGGACGCG
ENST00000682805.1:n.4854_4855insCGGGTGCAGTGCTCCGGCCGCCTGGGCGGCGCCGAGATGAGCCGCAGCGAGTTCTACCGCGAGGGACGCG
ENST00000682965.1:c.*656_*657insCGGGTGCAGTGCTCCGGCCGCCTGGGCGGCGCCGAGATGAGCCGCAGCGAGTTCTACCGCGAGGGACGCG ENSP00000508229.1:n.*656_*657insCGGGTGCAGTGCTCCGGCCGCCTGGGCGG...
ENST00000683093.1:n.5533_5534insCGGGTGCAGTGCTCCGGCCGCCTGGGCGGCGCCGAGATGAGCCGCAGCGAGTTCTACCGCGAGGGACGCG
ENST00000683136.1:c.4117_4118insCGGGTGCAGTGCTCCGGCCGCCTGGGCGGCGCCGAGATGAGCCGCAGCGAGTTCTACCGCGAGGGACGCG ENSP00000507768.1:p.Leu1373ProfsTer50
ENST00000683153.1:n.4491_4492insCGGGTGCAGTGCTCCGGCCGCCTGGGCGGCGCCGAGATGAGCCGCAGCGAGTTCTACCGCGAGGGACGCG
ENST00000683365.1:n.4551_4552insCGGGTGCAGTGCTCCGGCCGCCTGGGCGGCGCCGAGATGAGCCGCAGCGAGTTCTACCGCGAGGGACGCG
ENST00000683377.1:n.4449_4450insCGGGTGCAGTGCTCCGGCCGCCTGGGCGGCGCCGAGATGAGCCGCAGCGAGTTCTACCGCGAGGGACGCG
ENST00000683456.1:c.*1371_*1372insCGGGTGCAGTGCTCCGGCCGCCTGGGCGGCGCCGAGATGAGCCGCAGCGAGTTCTACCGCGAGGGACGCG ENSP00000508318.1:n.*1371_*1372insCGGGTGCAGTGCTCCGGCCGCCTGGGC...
ENST00000683522.1:n.4449_4450insCGGGTGCAGTGCTCCGGCCGCCTGGGCGGCGCCGAGATGAGCCGCAGCGAGTTCTACCGCGAGGGACGCG
ENST00000683562.1:c.*2403_*2404insCGGGTGCAGTGCTCCGGCCGCCTGGGCGGCGCCGAGATGAGCCGCAGCGAGTTCTACCGCGAGGGACGCG ENSP00000508265.1:n.*2403_*2404insCGGGTGCAGTGCTCCGGCCGCCTGGGC...
ENST00000683693.1:n.6014_6015insCGGGTGCAGTGCTCCGGCCGCCTGGGCGGCGCCGAGATGAGCCGCAGCGAGTTCTACCGCGAGGGACGCG
ENST00000683725.1:c.4234_4235insCGGGTGCAGTGCTCCGGCCGCCTGGGCGGCGCCGAGATGAGCCGCAGCGAGTTCTACCGCGAGGGACGCG ENSP00000507496.1:p.Leu1412ProfsTer?
ENST00000684010.1:n.4444_4445insCGGGTGCAGTGCTCCGGCCGCCTGGGCGGCGCCGAGATGAGCCGCAGCGAGTTCTACCGCGAGGGACGCG
ENST00000684157.1:n.5434_5435insCGGGTGCAGTGCTCCGGCCGCCTGGGCGGCGCCGAGATGAGCCGCAGCGAGTTCTACCGCGAGGGACGCG
ENST00000684253.1:n.4352_4353insCGGGTGCAGTGCTCCGGCCGCCTGGGCGGCGCCGAGATGAGCCGCAGCGAGTTCTACCGCGAGGGACGCG
ENST00000684288.1:c.*2406_*2407insCGGGTGCAGTGCTCCGGCCGCCTGGGCGGCGCCGAGATGAGCCGCAGCGAGTTCTACCGCGAGGGACGCG ENSP00000507143.1:n.*2406_*2407insCGGGTGCAGTGCTCCGGCCGCCTGGGC...
ENST00000684313.1:n.3881_3882insCGGGTGCAGTGCTCCGGCCGCCTGGGCGGCGCCGAGATGAGCCGCAGCGAGTTCTACCGCGAGGGACGCG
ENST00000684332.1:n.4522_4523insCGGGTGCAGTGCTCCGGCCGCCTGGGCGGCGCCGAGATGAGCCGCAGCGAGTTCTACCGCGAGGGACGCG
ENST00000684371.1:n.4555_4556insCGGGTGCAGTGCTCCGGCCGCCTGGGCGGCGCCGAGATGAGCCGCAGCGAGTTCTACCGCGAGGGACGCG
ENST00000684404.1:n.5477_5478insCGGGTGCAGTGCTCCGGCCGCCTGGGCGGCGCCGAGATGAGCCGCAGCGAGTTCTACCGCGAGGGACGCG
ENST00000684442.1:n.4673_4674insCGGGTGCAGTGCTCCGGCCGCCTGGGCGGCGCCGAGATGAGCCGCAGCGAGTTCTACCGCGAGGGACGCG
ENST00000684555.1:c.*2446_*2447insCGGGTGCAGTGCTCCGGCCGCCTGGGCGGCGCCGAGATGAGCCGCAGCGAGTTCTACCGCGAGGGACGCG ENSP00000507705.1:n.*2446_*2447insCGGGTGCAGTGCTCCGGCCGCCTGGGC...
ENST00000684571.1:c.4075_4076insCGGGTGCAGTGCTCCGGCCGCCTGGGCGGCGCCGAGATGAGCCGCAGCGAGTTCTACCGCGAGGGACGCG ENSP00000506935.1:p.Leu1359ProfsTer50
ENST00000684593.1:c.*3939_*3940insCGGGTGCAGTGCTCCGGCCGCCTGGGCGGCGCCGAGATGAGCCGCAGCGAGTTCTACCGCGAGGGACGCG ENSP00000507005.1:n.*3939_*3940insCGGGTGCAGTGCTCCGGCCGCCTGGGC...
ENST00000684711.1:c.*2630_*2631insCGGGTGCAGTGCTCCGGCCGCCTGGGCGGCGCCGAGATGAGCCGCAGCGAGTTCTACCGCGAGGGACGCG ENSP00000506841.1:n.*2630_*2631insCGGGTGCAGTGCTCCGGCCGCCTGGGC...
ENST00000302539.9:c.4237_4238insCGGGTGCAGTGCTCCGGCCGCCTGGGCGGCGCCGAGATGAGCCGCAGCGAGTTCTACCGCGAGGGACGCG ENSP00000303960.4:p.Leu1413ProfsTer50
ENST00000389817.8:c.4234_4235insCGGGTGCAGTGCTCCGGCCGCCTGGGCGGCGCCGAGATGAGCCGCAGCGAGTTCTACCGCGAGGGACGCG MANE Select ENSP00000374467.4:p.Leu1412ProfsTer50
ENST00000642271.1:c.4231_4232insCGGGTGCAGTGCTCCGGCCGCCTGGGCGGCGCCGAGATGAGCCGCAGCGAGTTCTACCGCGAGGGACGCG ENSP00000493749.1:p.Leu1411ProfsTer50
ENST00000642579.1:c.2288_2289insCGGGTGCAGTGCTCCGGCCGCCTGGGCGGCGCCGAGATGAGCCGCAGCGAGTTCTACCGCGAGGGACGCG
ENST00000642611.1:n.5452_5453insCGGGTGCAGTGCTCCGGCCGCCTGGGCGGCGCCGAGATGAGCCGCAGCGAGTTCTACCGCGAGGGACGCG
ENST00000642902.1:c.4016_4017insCGGGTGCAGTGCTCCGGCCGCCTGGGCGGCGCCGAGATGAGCCGCAGCGAGTTCTACCGCGAGGGACGCG
ENST00000643260.1:c.4234_4235insCGGGTGCAGTGCTCCGGCCGCCTGGGCGGCGCCGAGATGAGCCGCAGCGAGTTCTACCGCGAGGGACGCG ENSP00000494450.1:p.Leu1412ProfsTer50
ENST00000643562.1:c.*2356_*2357insCGGGTGCAGTGCTCCGGCCGCCTGGGCGGCGCCGAGATGAGCCGCAGCGAGTTCTACCGCGAGGGACGCG ENSP00000496124.1:n.*2356_*2357insCGGGTGCAGTGCTCCGGCCGCCTGGGC...
ENST00000643925.1:c.2874_2875insCGGGTGCAGTGCTCCGGCCGCCTGGGCGGCGCCGAGATGAGCCGCAGCGAGTTCTACCGCGAGGGACGCG
ENST00000644057.1:n.311_312insCGGGTGCAGTGCTCCGGCCGCCTGGGCGGCGCCGAGATGAGCCGCAGCGAGTTCTACCGCGAGGGACGCG
ENST00000644484.1:c.*3620_*3621insCGGGTGCAGTGCTCCGGCCGCCTGGGCGGCGCCGAGATGAGCCGCAGCGAGTTCTACCGCGAGGGACGCG ENSP00000493558.1:n.*3620_*3621insCGGGTGCAGTGCTCCGGCCGCCTGGGC...
ENST00000644675.1:c.*2406_*2407insCGGGTGCAGTGCTCCGGCCGCCTGGGCGGCGCCGAGATGAGCCGCAGCGAGTTCTACCGCGAGGGACGCG ENSP00000494567.1:n.*2406_*2407insCGGGTGCAGTGCTCCGGCCGCCTGGGC...
ENST00000644757.1:c.*3202+581_*3202+582insCGGGTGCAGTGCTCCGGCCGCCTGGGCGGCGCCGAGATGAGCCGCAGCGAGTTCTACCGCGAGGGACGCG ENSP00000495085.1:n.*3202+581_*3202+582insCGGGTGCAGTGCTCCGGCC...
ENST00000644772.1:c.4300_4301insCGGGTGCAGTGCTCCGGCCGCCTGGGCGGCGCCGAGATGAGCCGCAGCGAGTTCTACCGCGAGGGACGCG ENSP00000494321.1:p.Leu1434ProfsTer50
ENST00000645004.1:n.1927_1928insCGGGTGCAGTGCTCCGGCCGCCTGGGCGGCGCCGAGATGAGCCGCAGCGAGTTCTACCGCGAGGGACGCG
ENST00000645076.1:c.3433_3434insCGGGTGCAGTGCTCCGGCCGCCTGGGCGGCGCCGAGATGAGCCGCAGCGAGTTCTACCGCGAGGGACGCG
ENST00000645417.1:c.1422_1423insCGGGTGCAGTGCTCCGGCCGCCTGGGCGGCGCCGAGATGAGCCGCAGCGAGTTCTACCGCGAGGGACGCG
ENST00000645744.1:c.*3964-45_*3964-44insCGGGTGCAGTGCTCCGGCCGCCTGGGCGGCGCCGAGATGAGCCGCAGCGAGTTCTACCGCGAGGGACGCG ENSP00000494564.1:n.*3964-45_*3964-44insCGGGTGCAGTGCTCCGGCCGC...
ENST00000645760.1:c.4655_4656insCGGGTGCAGTGCTCCGGCCGCCTGGGCGGCGCCGAGATGAGCCGCAGCGAGTTCTACCGCGAGGGACGCG
ENST00000645884.1:c.*1517_*1518insCGGGTGCAGTGCTCCGGCCGCCTGGGCGGCGCCGAGATGAGCCGCAGCGAGTTCTACCGCGAGGGACGCG ENSP00000495516.1:n.*1517_*1518insCGGGTGCAGTGCTCCGGCCGCCTGGGC...
ENST00000646003.1:c.*2301-45_*2301-44insCGGGTGCAGTGCTCCGGCCGCCTGGGCGGCGCCGAGATGAGCCGCAGCGAGTTCTACCGCGAGGGACGCG ENSP00000495259.1:n.*2301-45_*2301-44insCGGGTGCAGTGCTCCGGCCGC...
ENST00000646207.1:c.*3071_*3072insCGGGTGCAGTGCTCCGGCCGCCTGGGCGGCGCCGAGATGAGCCGCAGCGAGTTCTACCGCGAGGGACGCG ENSP00000495025.1:n.*3071_*3072insCGGGTGCAGTGCTCCGGCCGCCTGGGC...
ENST00000646276.1:c.*3638_*3639insCGGGTGCAGTGCTCCGGCCGCCTGGGCGGCGCCGAGATGAGCCGCAGCGAGTTCTACCGCGAGGGACGCG ENSP00000496070.1:n.*3638_*3639insCGGGTGCAGTGCTCCGGCCGCCTGGGC...
ENST00000646592.1:c.3540_3541insCGGGTGCAGTGCTCCGGCCGCCTGGGCGGCGCCGAGATGAGCCGCAGCGAGTTCTACCGCGAGGGACGCG
ENST00000646902.1:c.4201_4202insCGGGTGCAGTGCTCCGGCCGCCTGGGCGGCGCCGAGATGAGCCGCAGCGAGTTCTACCGCGAGGGACGCG ENSP00000494101.1:p.Leu1401ProfsTer50
ENST00000646993.1:c.*2776_*2777insCGGGTGCAGTGCTCCGGCCGCCTGGGCGGCGCCGAGATGAGCCGCAGCGAGTTCTACCGCGAGGGACGCG ENSP00000493720.1:n.*2776_*2777insCGGGTGCAGTGCTCCGGCCGCCTGGGC...
ENST00000647013.1:c.4240_4241insCGGGTGCAGTGCTCCGGCCGCCTGGGCGGCGCCGAGATGAGCCGCAGCGAGTTCTACCGCGAGGGACGCG ENSP00000496741.1:n.4240_4241insCGGGTGCAGTGCTCCGGCCGCCTGGGCGG...
ENST00000647015.1:c.3985_3986insCGGGTGCAGTGCTCCGGCCGCCTGGGCGGCGCCGAGATGAGCCGCAGCGAGTTCTACCGCGAGGGACGCG ENSP00000495389.1:p.Leu1329ProfsTer50
ENST00000647086.1:c.*3820_*3821insCGGGTGCAGTGCTCCGGCCGCCTGGGCGGCGCCGAGATGAGCCGCAGCGAGTTCTACCGCGAGGGACGCG ENSP00000493677.1:n.*3820_*3821insCGGGTGCAGTGCTCCGGCCGCCTGGGC...
ENST00000647158.1:c.*2521_*2522insCGGGTGCAGTGCTCCGGCCGCCTGGGCGGCGCCGAGATGAGCCGCAGCGAGTTCTACCGCGAGGGACGCG ENSP00000495744.1:n.*2521_*2522insCGGGTGCAGTGCTCCGGCCGCCTGGGC...
ENST00000302539.8:c.4237_4238insCGGGTGCAGTGCTCCGGCCGCCTGGGCGGCGCCGAGATGAGCCGCAGCGAGTTCTACCGCGAGGGACGCG ENSP00000303960.4:p.Leu1413ProfsTer50
ENST00000389817.7:c.4234_4235insCGGGTGCAGTGCTCCGGCCGCCTGGGCGGCGCCGAGATGAGCCGCAGCGAGTTCTACCGCGAGGGACGCG ENSP00000374467.3:p.Leu1412ProfsTer50
ENST00000525022.1:n.233_234insCGGGTGCAGTGCTCCGGCCGCCTGGGCGGCGCCGAGATGAGCCGCAGCGAGTTCTACCGCGAGGGACGCG
ENST00000526037.5:n.98_99insCGGGTGCAGTGCTCCGGCCGCCTGGGCGGCGCCGAGATGAGCCGCAGCGAGTTCTACCGCGAGGGACGCG
ENST00000526168.5:c.67-45_67-44insCGGGTGCAGTGCTCCGGCCGCCTGGGCGGCGCCGAGATGAGCCGCAGCGAGTTCTACCGCGAGGGACGCG
ENST00000531642.5:c.70_71insCGGGTGCAGTGCTCCGGCCGCCTGGGCGGCGCCGAGATGAGCCGCAGCGAGTTCTACCGCGAGGGACGCG
NM_000352.4:c.4234_4235insCGGGTGCAGTGCTCCGGCCGCCTGGGCGGCGCCGAGATGAGCCGCAGCGAGTTCTACCGCGAGGGACGCG NP_000343.2:p.Leu1412ProfsTer50
NM_001287174.1:c.4237_4238insCGGGTGCAGTGCTCCGGCCGCCTGGGCGGCGCCGAGATGAGCCGCAGCGAGTTCTACCGCGAGGGACGCG NP_001274103.1:p.Leu1413ProfsTer50
XM_011520331.1:c.4234_4235insCGGGTGCAGTGCTCCGGCCGCCTGGGCGGCGCCGAGATGAGCCGCAGCGAGTTCTACCGCGAGGGACGCG XP_011518633.1:p.Leu1412ProfsTer50
XM_011520332.1:c.4237_4238insCGGGTGCAGTGCTCCGGCCGCCTGGGCGGCGCCGAGATGAGCCGCAGCGAGTTCTACCGCGAGGGACGCG XP_011518634.1:p.Leu1413ProfsTer?
XM_011520333.1:c.2734_2735insCGGGTGCAGTGCTCCGGCCGCCTGGGCGGCGCCGAGATGAGCCGCAGCGAGTTCTACCGCGAGGGACGCG XP_011518635.1:p.Leu912ProfsTer50
XR_930890.1:n.4300_4301insCGGGTGCAGTGCTCCGGCCGCCTGGGCGGCGCCGAGATGAGCCGCAGCGAGTTCTACCGCGAGGGACGCG
NM_001351295.1:c.4300_4301insCGGGTGCAGTGCTCCGGCCGCCTGGGCGGCGCCGAGATGAGCCGCAGCGAGTTCTACCGCGAGGGACGCG NP_001338224.1:p.Leu1434ProfsTer50
NM_001351296.1:c.4234_4235insCGGGTGCAGTGCTCCGGCCGCCTGGGCGGCGCCGAGATGAGCCGCAGCGAGTTCTACCGCGAGGGACGCG NP_001338225.1:p.Leu1412ProfsTer50
NM_001351297.1:c.4231_4232insCGGGTGCAGTGCTCCGGCCGCCTGGGCGGCGCCGAGATGAGCCGCAGCGAGTTCTACCGCGAGGGACGCG NP_001338226.1:p.Leu1411ProfsTer50
NR_147094.1:n.4529_4530insCGGGTGCAGTGCTCCGGCCGCCTGGGCGGCGCCGAGATGAGCCGCAGCGAGTTCTACCGCGAGGGACGCG
XM_017018197.2:c.4303_4304insCGGGTGCAGTGCTCCGGCCGCCTGGGCGGCGCCGAGATGAGCCGCAGCGAGTTCTACCGCGAGGGACGCG XP_016873686.1:p.Leu1435ProfsTer50
XM_017018199.1:c.4300_4301insCGGGTGCAGTGCTCCGGCCGCCTGGGCGGCGCCGAGATGAGCCGCAGCGAGTTCTACCGCGAGGGACGCG XP_016873688.1:p.Leu1434ProfsTer50
XM_017018201.2:c.4303_4304insCGGGTGCAGTGCTCCGGCCGCCTGGGCGGCGCCGAGATGAGCCGCAGCGAGTTCTACCGCGAGGGACGCG XP_016873690.1:p.Leu1435ProfsTer?
XM_017018202.1:c.2800_2801insCGGGTGCAGTGCTCCGGCCGCCTGGGCGGCGCCGAGATGAGCCGCAGCGAGTTCTACCGCGAGGGACGCG XP_016873691.1:p.Leu934ProfsTer50
XM_017018204.1:c.2191_2192insCGGGTGCAGTGCTCCGGCCGCCTGGGCGGCGCCGAGATGAGCCGCAGCGAGTTCTACCGCGAGGGACGCG XP_016873693.1:p.Leu731ProfsTer50
XM_024448668.1:c.2602_2603insCGGGTGCAGTGCTCCGGCCGCCTGGGCGGCGCCGAGATGAGCCGCAGCGAGTTCTACCGCGAGGGACGCG XP_024304436.1:p.Leu868ProfsTer50
XR_001747945.2:n.4375_4376insCGGGTGCAGTGCTCCGGCCGCCTGGGCGGCGCCGAGATGAGCCGCAGCGAGTTCTACCGCGAGGGACGCG
XR_001747946.2:n.4306_4307insCGGGTGCAGTGCTCCGGCCGCCTGGGCGGCGCCGAGATGAGCCGCAGCGAGTTCTACCGCGAGGGACGCG
XR_002957189.1:n.6089_6090insCGGGTGCAGTGCTCCGGCCGCCTGGGCGGCGCCGAGATGAGCCGCAGCGAGTTCTACCGCGAGGGACGCG
NM_000352.6:c.4234_4235insCGGGTGCAGTGCTCCGGCCGCCTGGGCGGCGCCGAGATGAGCCGCAGCGAGTTCTACCGCGAGGGACGCG MANE Select NP_000343.2:p.Leu1412ProfsTer50
NM_001287174.2:c.4237_4238insCGGGTGCAGTGCTCCGGCCGCCTGGGCGGCGCCGAGATGAGCCGCAGCGAGTTCTACCGCGAGGGACGCG NP_001274103.1:p.Leu1413ProfsTer50
NM_001351295.2:c.4300_4301insCGGGTGCAGTGCTCCGGCCGCCTGGGCGGCGCCGAGATGAGCCGCAGCGAGTTCTACCGCGAGGGACGCG NP_001338224.1:p.Leu1434ProfsTer50
NM_001351296.2:c.4234_4235insCGGGTGCAGTGCTCCGGCCGCCTGGGCGGCGCCGAGATGAGCCGCAGCGAGTTCTACCGCGAGGGACGCG NP_001338225.1:p.Leu1412ProfsTer50
NM_001351297.2:c.4231_4232insCGGGTGCAGTGCTCCGGCCGCCTGGGCGGCGCCGAGATGAGCCGCAGCGAGTTCTACCGCGAGGGACGCG NP_001338226.1:p.Leu1411ProfsTer50
NR_147094.2:n.4529_4530insCGGGTGCAGTGCTCCGGCCGCCTGGGCGGCGCCGAGATGAGCCGCAGCGAGTTCTACCGCGAGGGACGCG
NM_001287174.3:c.4237_4238insCGGGTGCAGTGCTCCGGCCGCCTGGGCGGCGCCGAGATGAGCCGCAGCGAGTTCTACCGCGAGGGACGCG NP_001274103.1:p.Leu1413ProfsTer50