Canonical Allele Identifier: CA2574768723

Gene: ABCC8

Linked Data

• gnomAD v4: 11-17442660-ACACCCTCTCCTTG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17442663_17442675del , CM000673.2:g.17442663_17442675del	GRCh38
NC_000011.9:g.17464210_17464222del , CM000673.1:g.17464210_17464222del	GRCh37
NC_000011.8:g.17420786_17420798del	NCBI36
NG_008867.1:g.39230_39242del

Transcript Alleles

HGVS	Amino-acid change
ENST00000524561.2:n.1267+47_1267+59del
ENST00000526002.2:n.1657+47_1657+59del
ENST00000528202.6:n.1696+47_1696+59del
ENST00000642611.2:n.1696+47_1696+59del
ENST00000682051.1:n.1643+47_1643+59del
ENST00000682110.1:n.1696+47_1696+59del
ENST00000682140.1:c.1627+47_1627+59del	ENSP00000507829.1:n.1627+47_1627+59del
ENST00000682185.1:n.2935+47_2935+59del
ENST00000682199.1:n.1696+47_1696+59del
ENST00000682204.1:c.1627+47_1627+59del	ENSP00000507094.1:n.1627+47_1627+59del
ENST00000682215.1:n.1696+47_1696+59del
ENST00000682288.1:c.1627+47_1627+59del	ENSP00000507506.1:n.1627+47_1627+59del
ENST00000682442.1:n.1744+47_1744+59del
ENST00000682528.1:n.1696+47_1696+59del
ENST00000682673.1:n.1643+47_1643+59del
ENST00000682805.1:n.1696+47_1696+59del
ENST00000682965.1:c.1627+47_1627+59del	ENSP00000508229.1:n.1627+47_1627+59del
ENST00000683093.1:n.1696+47_1696+59del
ENST00000683136.1:c.1627+47_1627+59del	ENSP00000507768.1:n.1627+47_1627+59del
ENST00000683153.1:n.1696+47_1696+59del
ENST00000683253.1:n.2610+47_2610+59del
ENST00000683365.1:n.1696+47_1696+59del
ENST00000683377.1:n.1696+47_1696+59del
ENST00000683456.1:c.1627+47_1627+59del	ENSP00000508318.1:n.1627+47_1627+59del
ENST00000683522.1:n.1696+47_1696+59del
ENST00000683531.1:n.1699+47_1699+59del
ENST00000683562.1:c.1630+47_1630+59del	ENSP00000508265.1:n.1630+47_1630+59del
ENST00000683693.1:n.1696+47_1696+59del
ENST00000683725.1:c.1630+47_1630+59del	ENSP00000507496.1:n.1630+47_1630+59del
ENST00000684010.1:n.1696+47_1696+59del
ENST00000684157.1:n.1696+47_1696+59del
ENST00000684253.1:n.1748+47_1748+59del
ENST00000684288.1:c.1630+47_1630+59del	ENSP00000507143.1:n.1630+47_1630+59del
ENST00000684313.1:n.1723+47_1723+59del
ENST00000684332.1:n.1696+47_1696+59del
ENST00000684371.1:n.1643+47_1643+59del
ENST00000684404.1:n.1696+47_1696+59del
ENST00000684442.1:n.1696+47_1696+59del
ENST00000684555.1:c.1630+47_1630+59del	ENSP00000507705.1:n.1630+47_1630+59del
ENST00000684571.1:c.1471+47_1471+59del	ENSP00000506935.1:n.1471+47_1471+59del
ENST00000684593.1:c.*1335+47_*1335+59del	ENSP00000507005.1:n.*1335+47_*1335+59del
ENST00000684711.1:c.1627+47_1627+59del	ENSP00000506841.1:n.1627+47_1627+59del
ENST00000302539.9:c.1630+47_1630+59del	ENSP00000303960.4:n.1630+47_1630+59del
ENST00000389817.8:c.1630+47_1630+59del MANE Select	ENSP00000374467.4:n.1630+47_1630+59del
ENST00000532728.6:c.1357+491_1357+503del
ENST00000635881.1:n.1658+47_1658+59del
ENST00000642271.1:c.1627+47_1627+59del	ENSP00000493749.1:n.1627+47_1627+59del
ENST00000642611.1:n.1581+47_1581+59del
ENST00000642902.1:c.1611+47_1611+59del
ENST00000643260.1:c.1627+47_1627+59del	ENSP00000494450.1:n.1627+47_1627+59del
ENST00000643562.1:c.1630+47_1630+59del	ENSP00000496124.1:n.1630+47_1630+59del
ENST00000644472.1:c.1329+5843_1329+5855del	ENSP00000495378.1:n.1329+5843_1329+5855de...
ENST00000644484.1:c.1627+47_1627+59del	ENSP00000493558.1:n.1627+47_1627+59del
ENST00000644542.1:c.*1332+47_*1332+59del	ENSP00000495532.1:n.*1332+47_*1332+59del
ENST00000644649.1:c.800+47_800+59del
ENST00000644675.1:c.1627+47_1627+59del	ENSP00000494567.1:n.1627+47_1627+59del
ENST00000644757.1:c.1630+47_1630+59del	ENSP00000495085.1:n.1630+47_1630+59del
ENST00000644772.1:c.1630+47_1630+59del	ENSP00000494321.1:n.1630+47_1630+59del
ENST00000645076.1:c.912+47_912+59del
ENST00000645744.1:c.1009-10429_1009-10417del	ENSP00000494564.1:n.1009-10429_1009-10417...
ENST00000645760.1:c.1803+47_1803+59del
ENST00000645884.1:c.1627+47_1627+59del	ENSP00000495516.1:n.1627+47_1627+59del
ENST00000646003.1:c.1627+47_1627+59del	ENSP00000495259.1:n.1627+47_1627+59del
ENST00000646207.1:c.1464+505_1464+517del	ENSP00000495025.1:n.1464+505_1464+517del
ENST00000646276.1:c.1606+47_1606+59del	ENSP00000496070.1:n.1606+47_1606+59del
ENST00000646592.1:c.881+47_881+59del
ENST00000646902.1:c.1627+47_1627+59del	ENSP00000494101.1:n.1627+47_1627+59del
ENST00000646993.1:c.1630+47_1630+59del	ENSP00000493720.1:n.1630+47_1630+59del
ENST00000647013.1:c.1528+47_1528+59del	ENSP00000496741.1:n.1528+47_1528+59del
ENST00000647015.1:c.1630+47_1630+59del	ENSP00000495389.1:n.1630+47_1630+59del
ENST00000647086.1:c.1627+47_1627+59del	ENSP00000493677.1:n.1627+47_1627+59del
ENST00000647158.1:c.1627+47_1627+59del	ENSP00000495744.1:n.1627+47_1627+59del
ENST00000302539.8:c.1630+47_1630+59del	ENSP00000303960.4:n.1630+47_1630+59del
ENST00000389817.7:c.1630+47_1630+59del	ENSP00000374467.3:n.1630+47_1630+59del
ENST00000526002.1:n.419+47_419+59del
ENST00000527905.5:c.1630+47_1630+59del	ENSP00000431653.1:n.1630+47_1630+59del
ENST00000528202.5:n.72+47_72+59del
ENST00000532728.5:n.1661+47_1661+59del
NM_000352.4:c.1630+47_1630+59del	NP_000343.2:n.1630+47_1630+59del
NM_001287174.1:c.1630+47_1630+59del	NP_001274103.1:n.1630+47_1630+59del
XM_011520331.1:c.1627+47_1627+59del	XP_011518633.1:n.1627+47_1627+59del
XM_011520332.1:c.1630+47_1630+59del	XP_011518634.1:n.1630+47_1630+59del
XM_011520333.1:c.127+47_127+59del	XP_011518635.1:n.127+47_127+59del
XM_011520334.1:c.1630+47_1630+59del	XP_011518636.1:n.1630+47_1630+59del
XR_930890.1:n.1693+47_1693+59del
XR_930891.1:n.1693+47_1693+59del
XR_930892.1:n.1693+47_1693+59del
XR_930893.1:n.1693+47_1693+59del
NM_001351295.1:c.1630+47_1630+59del	NP_001338224.1:n.1630+47_1630+59del
NM_001351296.1:c.1627+47_1627+59del	NP_001338225.1:n.1627+47_1627+59del
NM_001351297.1:c.1627+47_1627+59del	NP_001338226.1:n.1627+47_1627+59del
NR_147094.1:n.1696+47_1696+59del
XM_017018197.2:c.1630+47_1630+59del	XP_016873686.1:n.1630+47_1630+59del
XM_017018199.1:c.1627+47_1627+59del	XP_016873688.1:n.1627+47_1627+59del
XM_017018201.2:c.1630+47_1630+59del	XP_016873690.1:n.1630+47_1630+59del
XM_017018202.1:c.127+47_127+59del	XP_016873691.1:n.127+47_127+59del
XM_017018204.1:c.-487+47_-487+59del	XP_016873693.1:n.-487+47_-487+59del
XM_024448668.1:c.-108+47_-108+59del	XP_024304436.1:n.-108+47_-108+59del
XR_001747945.2:n.1702+47_1702+59del
XR_001747946.2:n.1702+47_1702+59del
XR_002957189.1:n.1702+47_1702+59del
NM_000352.6:c.1630+47_1630+59del MANE Select	NP_000343.2:n.1630+47_1630+59del
NM_001287174.2:c.1630+47_1630+59del	NP_001274103.1:n.1630+47_1630+59del
NM_001351295.2:c.1630+47_1630+59del	NP_001338224.1:n.1630+47_1630+59del
NM_001351296.2:c.1627+47_1627+59del	NP_001338225.1:n.1627+47_1627+59del
NM_001351297.2:c.1627+47_1627+59del	NP_001338226.1:n.1627+47_1627+59del
NR_147094.2:n.1696+47_1696+59del
NM_001287174.3:c.1630+47_1630+59del	NP_001274103.1:n.1630+47_1630+59del