Canonical Allele Identifier: CA1955138315

Gene: ABCC8

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17428158_17428159delinsTC , CM000673.2:g.17428158_17428159delinsTC	GRCh38
NC_000011.9:g.17449705_17449706delinsTC , CM000673.1:g.17449705_17449706delinsTC	GRCh37
NC_000011.8:g.17406281_17406282delinsTC	NCBI36
NG_008867.1:g.53744_53745delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.1709+130_1709+131delinsGA
ENST00000529967.6:n.299+130_299+131delinsGA
ENST00000642611.2:n.2106+130_2106+131delinsGA
ENST00000682051.1:n.2053+130_2053+131delinsGA
ENST00000682110.1:n.2106+130_2106+131delinsGA
ENST00000682140.1:c.2037+130_2037+131delinsGA	ENSP00000507829.1:n.2037+130_2037+131delinsGA
ENST00000682185.1:n.3345+130_3345+131delinsGA
ENST00000682204.1:c.*178+130_*178+131delinsGA	ENSP00000507094.1:n.*178+130_*178+131delinsGA
ENST00000682215.1:n.2106+130_2106+131delinsGA
ENST00000682288.1:c.*468+130_*468+131delinsGA	ENSP00000507506.1:n.*468+130_*468+131delinsGA
ENST00000682442.1:n.2227+130_2227+131delinsGA
ENST00000682528.1:n.2106+130_2106+131delinsGA
ENST00000682673.1:n.2053+130_2053+131delinsGA
ENST00000682805.1:n.2106+130_2106+131delinsGA
ENST00000682965.1:c.2037+130_2037+131delinsGA	ENSP00000508229.1:n.2037+130_2037+131delinsGA
ENST00000683093.1:n.2208+130_2208+131delinsGA
ENST00000683136.1:c.2037+130_2037+131delinsGA	ENSP00000507768.1:n.2037+130_2037+131delinsGA
ENST00000683153.1:n.2265+130_2265+131delinsGA
ENST00000683253.1:n.3122+130_3122+131delinsGA
ENST00000683365.1:n.2208+130_2208+131delinsGA
ENST00000683377.1:n.2106+130_2106+131delinsGA
ENST00000683456.1:c.2037+130_2037+131delinsGA	ENSP00000508318.1:n.2037+130_2037+131delinsGA
ENST00000683522.1:n.2106+130_2106+131delinsGA
ENST00000683562.1:c.*209+130_*209+131delinsGA	ENSP00000508265.1:n.*209+130_*209+131delinsGA
ENST00000683693.1:n.2106+130_2106+131delinsGA
ENST00000683725.1:c.2040+130_2040+131delinsGA	ENSP00000507496.1:n.2040+130_2040+131delinsGA
ENST00000684010.1:n.2106+130_2106+131delinsGA
ENST00000684157.1:n.2106+130_2106+131delinsGA
ENST00000684253.1:n.2012+130_2012+131delinsGA
ENST00000684288.1:c.*209+130_*209+131delinsGA	ENSP00000507143.1:n.*209+130_*209+131delinsGA
ENST00000684313.1:n.1724-11197_1724-11196delinsGA
ENST00000684332.1:n.2179+130_2179+131delinsGA
ENST00000684371.1:n.2212+130_2212+131delinsGA
ENST00000684404.1:n.2106+130_2106+131delinsGA
ENST00000684442.1:n.2106+130_2106+131delinsGA
ENST00000684555.1:c.*249+130_*249+131delinsGA	ENSP00000507705.1:n.*249+130_*249+131delinsGA
ENST00000684571.1:c.1881+130_1881+131delinsGA	ENSP00000506935.1:n.1881+130_1881+131delinsGA
ENST00000684593.1:c.*1745+130_*1745+131delinsGA	ENSP00000507005.1:n.*1745+130_*1745+131delinsGA
ENST00000684711.1:c.*436+130_*436+131delinsGA	ENSP00000506841.1:n.*436+130_*436+131delinsGA
ENST00000302539.9:c.2040+130_2040+131delinsGA	ENSP00000303960.4:n.2040+130_2040+131delinsGA
ENST00000389817.8:c.2040+130_2040+131delinsGA MANE Select	ENSP00000374467.4:n.2040+130_2040+131delinsGA
ENST00000532728.6:c.1621+130_1621+131delinsGA
ENST00000642271.1:c.2037+130_2037+131delinsGA	ENSP00000493749.1:n.2037+130_2037+131delinsGA
ENST00000642579.1:c.121+130_121+131delinsGA
ENST00000642611.1:n.1991+130_1991+131delinsGA
ENST00000642902.1:c.1875+130_1875+131delinsGA
ENST00000643260.1:c.2037+130_2037+131delinsGA	ENSP00000494450.1:n.2037+130_2037+131delinsGA
ENST00000643562.1:c.*16+130_*16+131delinsGA	ENSP00000496124.1:n.*16+130_*16+131delinsGA
ENST00000644447.1:c.393+130_393+131delinsGA	ENSP00000496282.1:n.393+130_393+131delinsGA
ENST00000644472.1:c.*401+130_*401+131delinsGA	ENSP00000495378.1:n.*401+130_*401+131delinsGA
ENST00000644484.1:c.*249+130_*249+131delinsGA	ENSP00000493558.1:n.*249+130_*249+131delinsGA
ENST00000644542.1:c.*1742+130_*1742+131delinsGA	ENSP00000495532.1:n.*1742+130_*1742+131delinsGA
ENST00000644649.1:c.1210+130_1210+131delinsGA
ENST00000644675.1:c.*209+130_*209+131delinsGA	ENSP00000494567.1:n.*209+130_*209+131delinsGA
ENST00000644757.1:c.*342+130_*342+131delinsGA	ENSP00000495085.1:n.*342+130_*342+131delinsGA
ENST00000644772.1:c.2106+130_2106+131delinsGA	ENSP00000494321.1:n.2106+130_2106+131delinsGA
ENST00000645076.1:c.1292+130_1292+131delinsGA
ENST00000645744.1:c.*401+130_*401+131delinsGA	ENSP00000494564.1:n.*401+130_*401+131delinsGA
ENST00000645760.1:c.2315+130_2315+131delinsGA
ENST00000645884.1:c.2037+130_2037+131delinsGA	ENSP00000495516.1:n.2037+130_2037+131delinsGA
ENST00000646003.1:c.*178+130_*178+131delinsGA	ENSP00000495259.1:n.*178+130_*178+131delinsGA
ENST00000646207.1:c.*401+130_*401+131delinsGA	ENSP00000495025.1:n.*401+130_*401+131delinsGA
ENST00000646276.1:c.*310+130_*310+131delinsGA	ENSP00000496070.1:n.*310+130_*310+131delinsGA
ENST00000646592.1:c.1263+130_1263+131delinsGA
ENST00000646902.1:c.2037+130_2037+131delinsGA	ENSP00000494101.1:n.2037+130_2037+131delinsGA
ENST00000646993.1:c.*436+130_*436+131delinsGA	ENSP00000493720.1:n.*436+130_*436+131delinsGA
ENST00000647013.1:c.2043+130_2043+131delinsGA	ENSP00000496741.1:n.2043+130_2043+131delinsGA
ENST00000647015.1:c.1788+130_1788+131delinsGA	ENSP00000495389.1:n.1788+130_1788+131delinsGA
ENST00000647086.1:c.*1767+130_*1767+131delinsGA	ENSP00000493677.1:n.*1767+130_*1767+131delinsGA
ENST00000647158.1:c.*178+130_*178+131delinsGA	ENSP00000495744.1:n.*178+130_*178+131delinsGA
ENST00000302539.8:c.2040+130_2040+131delinsGA	ENSP00000303960.4:n.2040+130_2040+131delinsGA
ENST00000389817.7:c.2040+130_2040+131delinsGA	ENSP00000374467.3:n.2040+130_2040+131delinsGA
ENST00000527905.5:c.2010+130_2010+131delinsGA	ENSP00000431653.1:n.2010+130_2010+131delinsGA
NM_000352.4:c.2040+130_2040+131delinsGA	NP_000343.2:n.2040+130_2040+131delinsGA
NM_001287174.1:c.2040+130_2040+131delinsGA	NP_001274103.1:n.2040+130_2040+131delinsGA
XM_011520331.1:c.2037+130_2037+131delinsGA	XP_011518633.1:n.2037+130_2037+131delinsGA
XM_011520332.1:c.2040+130_2040+131delinsGA	XP_011518634.1:n.2040+130_2040+131delinsGA
XM_011520333.1:c.537+130_537+131delinsGA	XP_011518635.1:n.537+130_537+131delinsGA
XM_011520334.1:c.2040+130_2040+131delinsGA	XP_011518636.1:n.2040+130_2040+131delinsGA
XR_930890.1:n.2103+130_2103+131delinsGA
XR_930891.1:n.2103+130_2103+131delinsGA
XR_930892.1:n.2103+130_2103+131delinsGA
XR_930893.1:n.2103+130_2103+131delinsGA
NM_001351295.1:c.2106+130_2106+131delinsGA	NP_001338224.1:n.2106+130_2106+131delinsGA
NM_001351296.1:c.2037+130_2037+131delinsGA	NP_001338225.1:n.2037+130_2037+131delinsGA
NM_001351297.1:c.2037+130_2037+131delinsGA	NP_001338226.1:n.2037+130_2037+131delinsGA
NR_147094.1:n.2106+130_2106+131delinsGA
XM_017018197.2:c.2106+130_2106+131delinsGA	XP_016873686.1:n.2106+130_2106+131delinsGA
XM_017018199.1:c.2103+130_2103+131delinsGA	XP_016873688.1:n.2103+130_2103+131delinsGA
XM_017018201.2:c.2106+130_2106+131delinsGA	XP_016873690.1:n.2106+130_2106+131delinsGA
XM_017018202.1:c.603+130_603+131delinsGA	XP_016873691.1:n.603+130_603+131delinsGA
XM_017018204.1:c.-4+130_-4+131delinsGA	XP_016873693.1:n.-4+130_-4+131delinsGA
XM_024448668.1:c.405+130_405+131delinsGA	XP_024304436.1:n.405+130_405+131delinsGA
XR_001747945.2:n.2178+130_2178+131delinsGA
XR_001747946.2:n.2112+130_2112+131delinsGA
XR_002957189.1:n.2178+130_2178+131delinsGA
NM_000352.6:c.2040+130_2040+131delinsGA MANE Select	NP_000343.2:n.2040+130_2040+131delinsGA
NM_001287174.2:c.2040+130_2040+131delinsGA	NP_001274103.1:n.2040+130_2040+131delinsGA
NM_001351295.2:c.2106+130_2106+131delinsGA	NP_001338224.1:n.2106+130_2106+131delinsGA
NM_001351296.2:c.2037+130_2037+131delinsGA	NP_001338225.1:n.2037+130_2037+131delinsGA
NM_001351297.2:c.2037+130_2037+131delinsGA	NP_001338226.1:n.2037+130_2037+131delinsGA
NR_147094.2:n.2106+130_2106+131delinsGA
NM_001287174.3:c.2040+130_2040+131delinsGA	NP_001274103.1:n.2040+130_2040+131delinsGA