Canonical Allele Identifier: CA2612642105

Gene: ABCC8

Linked Data

• gnomAD v4: 11-17396738-TAGA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17396741_17396743del , CM000673.2:g.17396741_17396743del	GRCh38
NC_000011.9:g.17418288_17418290del , CM000673.1:g.17418288_17418290del	GRCh37
NC_000011.8:g.17374864_17374866del	NCBI36
NG_008867.1:g.85162_85164del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3720+175_3720+177del
ENST00000528374.2:c.710+175_710+177del
ENST00000529967.6:n.2458+175_2458+177del
ENST00000532220.2:n.2542_2544del
ENST00000642611.2:n.4509_4511del
ENST00000644057.2:n.562+175_562+177del
ENST00000645004.2:n.1618+175_1618+177del
ENST00000682051.1:n.4281+175_4281+177del
ENST00000682110.1:n.4334+175_4334+177del
ENST00000682140.1:c.3985+452_3985+454del	ENSP00000507829.1:n.3985+452_3985+454del
ENST00000682185.1:n.5424+175_5424+177del
ENST00000682204.1:c.*2257+175_*2257+177del	ENSP00000507094.1:n.*2257+175_*2257+177del
ENST00000682215.1:n.4701+175_4701+177del
ENST00000682288.1:c.*2550+175_*2550+177del	ENSP00000507506.1:n.*2550+175_*2550+177del
ENST00000682442.1:n.4554+175_4554+177del
ENST00000682528.1:n.4411+175_4411+177del
ENST00000682673.1:n.4278+175_4278+177del
ENST00000682805.1:n.4739+137_4739+139del
ENST00000682965.1:c.*541+175_*541+177del	ENSP00000508229.1:n.*541+175_*541+177del
ENST00000683093.1:n.4608_4610del
ENST00000683136.1:c.4002+175_4002+177del	ENSP00000507768.1:n.4002+175_4002+177del
ENST00000683153.1:n.4376+175_4376+177del
ENST00000683365.1:n.4436+175_4436+177del
ENST00000683377.1:n.4334+175_4334+177del
ENST00000683456.1:c.*1256+175_*1256+177del	ENSP00000508318.1:n.*1256+175_*1256+177del
ENST00000683522.1:n.4334+175_4334+177del
ENST00000683562.1:c.*2288+175_*2288+177del	ENSP00000508265.1:n.*2288+175_*2288+177del
ENST00000683693.1:n.4956_4958del
ENST00000683725.1:c.4119+175_4119+177del	ENSP00000507496.1:n.4119+175_4119+177del
ENST00000684010.1:n.4329+175_4329+177del
ENST00000684157.1:n.4509_4511del
ENST00000684253.1:n.4237+175_4237+177del
ENST00000684288.1:c.*2291+175_*2291+177del	ENSP00000507143.1:n.*2291+175_*2291+177del
ENST00000684313.1:n.3766+175_3766+177del
ENST00000684332.1:n.4407+175_4407+177del
ENST00000684371.1:n.4440+175_4440+177del
ENST00000684404.1:n.4552_4554del
ENST00000684442.1:n.4558+175_4558+177del
ENST00000684555.1:c.*2331+175_*2331+177del	ENSP00000507705.1:n.*2331+175_*2331+177del
ENST00000684571.1:c.3960+175_3960+177del	ENSP00000506935.1:n.3960+175_3960+177del
ENST00000684593.1:c.*3824+175_*3824+177del	ENSP00000507005.1:n.*3824+175_*3824+177del
ENST00000684711.1:c.*2515+175_*2515+177del	ENSP00000506841.1:n.*2515+175_*2515+177del
ENST00000302539.9:c.4122+175_4122+177del	ENSP00000303960.4:n.4122+175_4122+177del
ENST00000389817.8:c.4119+175_4119+177del MANE Select	ENSP00000374467.4:n.4119+175_4119+177del
ENST00000642271.1:c.4116+175_4116+177del	ENSP00000493749.1:n.4116+175_4116+177del
ENST00000642579.1:c.2173+175_2173+177del
ENST00000642611.1:n.4394_4396del
ENST00000642902.1:c.3901+175_3901+177del
ENST00000643260.1:c.4119+175_4119+177del	ENSP00000494450.1:n.4119+175_4119+177del
ENST00000643562.1:c.*2241+175_*2241+177del	ENSP00000496124.1:n.*2241+175_*2241+177del
ENST00000643925.1:c.2759+175_2759+177del
ENST00000644057.1:n.196+175_196+177del
ENST00000644484.1:c.*2695_*2697del	ENSP00000493558.1:n.*2695_*2697del
ENST00000644675.1:c.*2291+175_*2291+177del	ENSP00000494567.1:n.*2291+175_*2291+177del
ENST00000644757.1:c.*2725_*2727del	ENSP00000495085.1:n.*2725_*2727del
ENST00000644772.1:c.4185+175_4185+177del	ENSP00000494321.1:n.4185+175_4185+177del
ENST00000645004.1:n.1812+137_1812+139del
ENST00000645076.1:c.3318+175_3318+177del
ENST00000645417.1:c.1307+175_1307+177del
ENST00000645744.1:c.*3074_*3076del	ENSP00000494564.1:n.*3074_*3076del
ENST00000645760.1:c.4540+175_4540+177del
ENST00000645884.1:c.*1402+175_*1402+177del	ENSP00000495516.1:n.*1402+175_*1402+177del
ENST00000646003.1:c.*2221+175_*2221+177del	ENSP00000495259.1:n.*2221+175_*2221+177del
ENST00000646207.1:c.*2956+175_*2956+177del	ENSP00000495025.1:n.*2956+175_*2956+177del
ENST00000646276.1:c.*2713_*2715del	ENSP00000496070.1:n.*2713_*2715del
ENST00000646592.1:c.3425+175_3425+177del
ENST00000646902.1:c.4086+175_4086+177del	ENSP00000494101.1:n.4086+175_4086+177del
ENST00000646993.1:c.*2661+175_*2661+177del	ENSP00000493720.1:n.*2661+175_*2661+177del
ENST00000647013.1:c.4125+175_4125+177del	ENSP00000496741.1:n.4125+175_4125+177del
ENST00000647015.1:c.3870+175_3870+177del	ENSP00000495389.1:n.3870+175_3870+177del
ENST00000647086.1:c.*3705+175_*3705+177del	ENSP00000493677.1:n.*3705+175_*3705+177del
ENST00000647158.1:c.*2406+175_*2406+177del	ENSP00000495744.1:n.*2406+175_*2406+177del
ENST00000302539.8:c.4122+175_4122+177del	ENSP00000303960.4:n.4122+175_4122+177del
ENST00000389817.7:c.4119+175_4119+177del	ENSP00000374467.3:n.4119+175_4119+177del
ENST00000528374.1:c.601+175_601+177del
ENST00000532220.1:n.593+175_593+177del
NM_000352.4:c.4119+175_4119+177del	NP_000343.2:n.4119+175_4119+177del
NM_001287174.1:c.4122+175_4122+177del	NP_001274103.1:n.4122+175_4122+177del
XM_011520331.1:c.4119+175_4119+177del	XP_011518633.1:n.4119+175_4119+177del
XM_011520332.1:c.4122+175_4122+177del	XP_011518634.1:n.4122+175_4122+177del
XM_011520333.1:c.2619+175_2619+177del	XP_011518635.1:n.2619+175_2619+177del
XR_930890.1:n.4185+175_4185+177del
NM_001351295.1:c.4185+175_4185+177del	NP_001338224.1:n.4185+175_4185+177del
NM_001351296.1:c.4119+175_4119+177del	NP_001338225.1:n.4119+175_4119+177del
NM_001351297.1:c.4116+175_4116+177del	NP_001338226.1:n.4116+175_4116+177del
NR_147094.1:n.4414+175_4414+177del
XM_017018197.2:c.4188+175_4188+177del	XP_016873686.1:n.4188+175_4188+177del
XM_017018199.1:c.4185+175_4185+177del	XP_016873688.1:n.4185+175_4185+177del
XM_017018201.2:c.4188+175_4188+177del	XP_016873690.1:n.4188+175_4188+177del
XM_017018202.1:c.2685+175_2685+177del	XP_016873691.1:n.2685+175_2685+177del
XM_017018204.1:c.2076+175_2076+177del	XP_016873693.1:n.2076+175_2076+177del
XM_024448668.1:c.2487+175_2487+177del	XP_024304436.1:n.2487+175_2487+177del
XR_001747945.2:n.4260+175_4260+177del
XR_001747946.2:n.4191+175_4191+177del
XR_002957189.1:n.5031_5033del
NM_000352.6:c.4119+175_4119+177del MANE Select	NP_000343.2:n.4119+175_4119+177del
NM_001287174.2:c.4122+175_4122+177del	NP_001274103.1:n.4122+175_4122+177del
NM_001351295.2:c.4185+175_4185+177del	NP_001338224.1:n.4185+175_4185+177del
NM_001351296.2:c.4119+175_4119+177del	NP_001338225.1:n.4119+175_4119+177del
NM_001351297.2:c.4116+175_4116+177del	NP_001338226.1:n.4116+175_4116+177del
NR_147094.2:n.4414+175_4414+177del
NM_001287174.3:c.4122+175_4122+177del	NP_001274103.1:n.4122+175_4122+177del