Canonical Allele Identifier: CA597904435

Gene: ABCC8

Linked Data

• dbSNP Id: rs1318158003
• gnomAD v2: 11-17418615-GCCA-G
• gnomAD v4: 11-17397068-GCCA-G
• MyVariant Identifiers: chr11:g.17418616_17418618del (hg19) ; chr11:g.17397069_17397071del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17397072_17397074del , CM000673.2:g.17397072_17397074del	GRCh38
NC_000011.9:g.17418619_17418621del , CM000673.1:g.17418619_17418621del	GRCh37
NC_000011.8:g.17375195_17375197del	NCBI36
NG_008867.1:g.84832_84834del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3565_3567del
ENST00000528374.2:c.568-13_568-11del
ENST00000529967.6:n.2328-25_2328-23del
ENST00000532220.2:n.2212_2214del
ENST00000642611.2:n.4179_4181del
ENST00000644057.2:n.432-25_432-23del
ENST00000645004.2:n.1488-25_1488-23del
ENST00000682051.1:n.4126_4128del
ENST00000682110.1:n.4179_4181del
ENST00000682140.1:c.3985+122_3985+124del	ENSP00000507829.1:n.3985+122_3985+124del
ENST00000682185.1:n.5294-25_5294-23del
ENST00000682204.1:c.*2127-25_*2127-23del	ENSP00000507094.1:n.*2127-25_*2127-23del
ENST00000682215.1:n.4546_4548del
ENST00000682288.1:c.*2420-25_*2420-23del	ENSP00000507506.1:n.*2420-25_*2420-23del
ENST00000682442.1:n.4399_4401del
ENST00000682528.1:n.4256_4258del
ENST00000682673.1:n.4123_4125del
ENST00000682805.1:n.4546_4548del
ENST00000682965.1:c.*411-25_*411-23del	ENSP00000508229.1:n.*411-25_*411-23del
ENST00000683093.1:n.4278_4280del
ENST00000683136.1:c.3872-25_3872-23del	ENSP00000507768.1:n.3872-25_3872-23del
ENST00000683153.1:n.4221_4223del
ENST00000683365.1:n.4281_4283del
ENST00000683377.1:n.4179_4181del
ENST00000683456.1:c.*1126-25_*1126-23del	ENSP00000508318.1:n.*1126-25_*1126-23del
ENST00000683522.1:n.4179_4181del
ENST00000683562.1:c.*2158-25_*2158-23del	ENSP00000508265.1:n.*2158-25_*2158-23del
ENST00000683693.1:n.4626_4628del
ENST00000683725.1:c.3989-25_3989-23del	ENSP00000507496.1:n.3989-25_3989-23del
ENST00000684010.1:n.4174_4176del
ENST00000684157.1:n.4179_4181del
ENST00000684253.1:n.4082_4084del
ENST00000684288.1:c.*2161-25_*2161-23del	ENSP00000507143.1:n.*2161-25_*2161-23del
ENST00000684313.1:n.3611_3613del
ENST00000684332.1:n.4252_4254del
ENST00000684371.1:n.4285_4287del
ENST00000684404.1:n.4222_4224del
ENST00000684442.1:n.4428-25_4428-23del
ENST00000684555.1:c.*2201-25_*2201-23del	ENSP00000507705.1:n.*2201-25_*2201-23del
ENST00000684571.1:c.3830-25_3830-23del	ENSP00000506935.1:n.3830-25_3830-23del
ENST00000684593.1:c.*3694-25_*3694-23del	ENSP00000507005.1:n.*3694-25_*3694-23del
ENST00000684711.1:c.*2385-25_*2385-23del	ENSP00000506841.1:n.*2385-25_*2385-23del
ENST00000302539.9:c.3992-25_3992-23del	ENSP00000303960.4:n.3992-25_3992-23del
ENST00000389817.8:c.3989-25_3989-23del MANE Select	ENSP00000374467.4:n.3989-25_3989-23del
ENST00000642271.1:c.3986-25_3986-23del	ENSP00000493749.1:n.3986-25_3986-23del
ENST00000642579.1:c.2073-55_2073-53del
ENST00000642611.1:n.4064_4066del
ENST00000642902.1:c.3771-25_3771-23del
ENST00000643260.1:c.3989-25_3989-23del	ENSP00000494450.1:n.3989-25_3989-23del
ENST00000643562.1:c.*2086_*2088del	ENSP00000496124.1:n.*2086_*2088del
ENST00000643925.1:c.2604_2606del
ENST00000644057.1:n.41_43del
ENST00000644484.1:c.*2365_*2367del	ENSP00000493558.1:n.*2365_*2367del
ENST00000644675.1:c.*2161-25_*2161-23del	ENSP00000494567.1:n.*2161-25_*2161-23del
ENST00000644757.1:c.*2395_*2397del	ENSP00000495085.1:n.*2395_*2397del
ENST00000644772.1:c.4055-25_4055-23del	ENSP00000494321.1:n.4055-25_4055-23del
ENST00000645004.1:n.1619_1621del
ENST00000645076.1:c.3188-25_3188-23del
ENST00000645417.1:c.1177-25_1177-23del
ENST00000645744.1:c.*2744_*2746del	ENSP00000494564.1:n.*2744_*2746del
ENST00000645760.1:c.4385_4387del
ENST00000645884.1:c.*1247_*1249del	ENSP00000495516.1:n.*1247_*1249del
ENST00000646003.1:c.*2066_*2068del	ENSP00000495259.1:n.*2066_*2068del
ENST00000646207.1:c.*2826-25_*2826-23del	ENSP00000495025.1:n.*2826-25_*2826-23del
ENST00000646276.1:c.*2383_*2385del	ENSP00000496070.1:n.*2383_*2385del
ENST00000646592.1:c.3295-25_3295-23del
ENST00000646902.1:c.3986-55_3986-53del	ENSP00000494101.1:n.3986-55_3986-53del
ENST00000646993.1:c.*2506_*2508del	ENSP00000493720.1:n.*2506_*2508del
ENST00000647013.1:c.3995-25_3995-23del	ENSP00000496741.1:n.3995-25_3995-23del
ENST00000647015.1:c.3740-25_3740-23del	ENSP00000495389.1:n.3740-25_3740-23del
ENST00000647086.1:c.*3605-55_*3605-53del	ENSP00000493677.1:n.*3605-55_*3605-53del
ENST00000647158.1:c.*2251_*2253del	ENSP00000495744.1:n.*2251_*2253del
ENST00000302539.8:c.3992-25_3992-23del	ENSP00000303960.4:n.3992-25_3992-23del
ENST00000389817.7:c.3989-25_3989-23del	ENSP00000374467.3:n.3989-25_3989-23del
ENST00000527905.5:c.*986_*988del	ENSP00000431653.1:n.*986_*988del
ENST00000528374.1:c.459-13_459-11del
ENST00000531137.1:n.529_531del
ENST00000531891.1:c.357-55_357-53del
ENST00000532220.1:n.438_440del
NM_000352.4:c.3989-25_3989-23del	NP_000343.2:n.3989-25_3989-23del
NM_001287174.1:c.3992-25_3992-23del	NP_001274103.1:n.3992-25_3992-23del
XM_011520331.1:c.3989-25_3989-23del	XP_011518633.1:n.3989-25_3989-23del
XM_011520332.1:c.3992-25_3992-23del	XP_011518634.1:n.3992-25_3992-23del
XM_011520333.1:c.2489-25_2489-23del	XP_011518635.1:n.2489-25_2489-23del
XR_930890.1:n.4055-25_4055-23del
NM_001351295.1:c.4055-25_4055-23del	NP_001338224.1:n.4055-25_4055-23del
NM_001351296.1:c.3989-25_3989-23del	NP_001338225.1:n.3989-25_3989-23del
NM_001351297.1:c.3986-25_3986-23del	NP_001338226.1:n.3986-25_3986-23del
NR_147094.1:n.4259_4261del
XM_017018197.2:c.4058-25_4058-23del	XP_016873686.1:n.4058-25_4058-23del
XM_017018199.1:c.4055-25_4055-23del	XP_016873688.1:n.4055-25_4055-23del
XM_017018201.2:c.4058-25_4058-23del	XP_016873690.1:n.4058-25_4058-23del
XM_017018202.1:c.2555-25_2555-23del	XP_016873691.1:n.2555-25_2555-23del
XM_017018204.1:c.1946-25_1946-23del	XP_016873693.1:n.1946-25_1946-23del
XM_024448668.1:c.2357-25_2357-23del	XP_024304436.1:n.2357-25_2357-23del
XR_001747945.2:n.4130-25_4130-23del
XR_001747946.2:n.4061-25_4061-23del
XR_002957189.1:n.4701_4703del
NM_000352.6:c.3989-25_3989-23del MANE Select	NP_000343.2:n.3989-25_3989-23del
NM_001287174.2:c.3992-25_3992-23del	NP_001274103.1:n.3992-25_3992-23del
NM_001351295.2:c.4055-25_4055-23del	NP_001338224.1:n.4055-25_4055-23del
NM_001351296.2:c.3989-25_3989-23del	NP_001338225.1:n.3989-25_3989-23del
NM_001351297.2:c.3986-25_3986-23del	NP_001338226.1:n.3986-25_3986-23del
NR_147094.2:n.4259_4261del
NM_001287174.3:c.3992-25_3992-23del	NP_001274103.1:n.3992-25_3992-23del