Canonical Allele Identifier: CA2790588463

Gene: ABCC8

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17397151_17397152insAACA , CM000673.2:g.17397151_17397152insAACA	GRCh38
NC_000011.9:g.17418698_17418699insAACA , CM000673.1:g.17418698_17418699insAACA	GRCh37
NC_000011.8:g.17375274_17375275insAACA	NCBI36
NG_008867.1:g.84751_84752insTGTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3484_3485insTGTT
ENST00000528374.2:c.567+41_567+42insTGTT
ENST00000529967.6:n.2327+41_2327+42insTGTT
ENST00000532220.2:n.2131_2132insTGTT
ENST00000642611.2:n.4098_4099insTGTT
ENST00000644057.2:n.431+41_431+42insTGTT
ENST00000645004.2:n.1487+41_1487+42insTGTT
ENST00000682051.1:n.4045_4046insTGTT
ENST00000682110.1:n.4098_4099insTGTT
ENST00000682140.1:c.3985+41_3985+42insTGTT	ENSP00000507829.1:n.3985+41_3985+42insTGTT
ENST00000682185.1:n.5293+41_5293+42insTGTT
ENST00000682204.1:c.*2126+41_*2126+42insTGTT	ENSP00000507094.1:n.*2126+41_*2126+42insTGTT
ENST00000682215.1:n.4465_4466insTGTT
ENST00000682288.1:c.*2419+41_*2419+42insTGTT	ENSP00000507506.1:n.*2419+41_*2419+42insTGTT
ENST00000682442.1:n.4318_4319insTGTT
ENST00000682528.1:n.4175_4176insTGTT
ENST00000682673.1:n.4042_4043insTGTT
ENST00000682805.1:n.4465_4466insTGTT
ENST00000682965.1:c.*410+41_*410+42insTGTT	ENSP00000508229.1:n.*410+41_*410+42insTGTT
ENST00000683093.1:n.4197_4198insTGTT
ENST00000683136.1:c.3871+41_3871+42insTGTT	ENSP00000507768.1:n.3871+41_3871+42insTGTT
ENST00000683153.1:n.4140_4141insTGTT
ENST00000683365.1:n.4200_4201insTGTT
ENST00000683377.1:n.4098_4099insTGTT
ENST00000683456.1:c.*1125+41_*1125+42insTGTT	ENSP00000508318.1:n.*1125+41_*1125+42insTGTT
ENST00000683522.1:n.4098_4099insTGTT
ENST00000683562.1:c.*2157+41_*2157+42insTGTT	ENSP00000508265.1:n.*2157+41_*2157+42insTGTT
ENST00000683693.1:n.4545_4546insTGTT
ENST00000683725.1:c.3988+41_3988+42insTGTT	ENSP00000507496.1:n.3988+41_3988+42insTGTT
ENST00000684010.1:n.4093_4094insTGTT
ENST00000684157.1:n.4098_4099insTGTT
ENST00000684253.1:n.4001_4002insTGTT
ENST00000684288.1:c.*2160+41_*2160+42insTGTT	ENSP00000507143.1:n.*2160+41_*2160+42insTGTT
ENST00000684313.1:n.3530_3531insTGTT
ENST00000684332.1:n.4171_4172insTGTT
ENST00000684371.1:n.4204_4205insTGTT
ENST00000684404.1:n.4141_4142insTGTT
ENST00000684442.1:n.4427+41_4427+42insTGTT
ENST00000684555.1:c.*2200+41_*2200+42insTGTT	ENSP00000507705.1:n.*2200+41_*2200+42insTGTT
ENST00000684571.1:c.3829+41_3829+42insTGTT	ENSP00000506935.1:n.3829+41_3829+42insTGTT
ENST00000684593.1:c.*3693+41_*3693+42insTGTT	ENSP00000507005.1:n.*3693+41_*3693+42insTGTT
ENST00000684711.1:c.*2384+41_*2384+42insTGTT	ENSP00000506841.1:n.*2384+41_*2384+42insTGTT
ENST00000302539.9:c.3991+41_3991+42insTGTT	ENSP00000303960.4:n.3991+41_3991+42insTGTT
ENST00000389817.8:c.3988+41_3988+42insTGTT MANE Select	ENSP00000374467.4:n.3988+41_3988+42insTGTT
ENST00000642271.1:c.3985+41_3985+42insTGTT	ENSP00000493749.1:n.3985+41_3985+42insTGTT
ENST00000642579.1:c.2072+41_2072+42insTGTT
ENST00000642611.1:n.3983_3984insTGTT
ENST00000642902.1:c.3770+41_3770+42insTGTT
ENST00000643260.1:c.3988+41_3988+42insTGTT	ENSP00000494450.1:n.3988+41_3988+42insTGTT
ENST00000643562.1:c.*2005_*2006insTGTT	ENSP00000496124.1:n.*2005_*2006insTGTT
ENST00000643925.1:c.2523_2524insTGTT
ENST00000644484.1:c.*2284_*2285insTGTT	ENSP00000493558.1:n.*2284_*2285insTGTT
ENST00000644675.1:c.*2160+41_*2160+42insTGTT	ENSP00000494567.1:n.*2160+41_*2160+42insTGTT
ENST00000644757.1:c.*2314_*2315insTGTT	ENSP00000495085.1:n.*2314_*2315insTGTT
ENST00000644772.1:c.4054+41_4054+42insTGTT	ENSP00000494321.1:n.4054+41_4054+42insTGTT
ENST00000645004.1:n.1538_1539insTGTT
ENST00000645076.1:c.3187+41_3187+42insTGTT
ENST00000645417.1:c.1176+41_1176+42insTGTT
ENST00000645744.1:c.*2663_*2664insTGTT	ENSP00000494564.1:n.*2663_*2664insTGTT
ENST00000645760.1:c.4304_4305insTGTT
ENST00000645884.1:c.*1166_*1167insTGTT	ENSP00000495516.1:n.*1166_*1167insTGTT
ENST00000646003.1:c.*1985_*1986insTGTT	ENSP00000495259.1:n.*1985_*1986insTGTT
ENST00000646207.1:c.*2825+41_*2825+42insTGTT	ENSP00000495025.1:n.*2825+41_*2825+42insTGTT
ENST00000646276.1:c.*2302_*2303insTGTT	ENSP00000496070.1:n.*2302_*2303insTGTT
ENST00000646592.1:c.3294+41_3294+42insTGTT
ENST00000646902.1:c.3985+41_3985+42insTGTT	ENSP00000494101.1:n.3985+41_3985+42insTGTT
ENST00000646993.1:c.*2425_*2426insTGTT	ENSP00000493720.1:n.*2425_*2426insTGTT
ENST00000647013.1:c.3994+41_3994+42insTGTT	ENSP00000496741.1:n.3994+41_3994+42insTGTT
ENST00000647015.1:c.3739+41_3739+42insTGTT	ENSP00000495389.1:n.3739+41_3739+42insTGTT
ENST00000647086.1:c.*3604+41_*3604+42insTGTT	ENSP00000493677.1:n.*3604+41_*3604+42insTGTT
ENST00000647158.1:c.*2170_*2171insTGTT	ENSP00000495744.1:n.*2170_*2171insTGTT
ENST00000302539.8:c.3991+41_3991+42insTGTT	ENSP00000303960.4:n.3991+41_3991+42insTGTT
ENST00000389817.7:c.3988+41_3988+42insTGTT	ENSP00000374467.3:n.3988+41_3988+42insTGTT
ENST00000527905.5:c.*905_*906insTGTT	ENSP00000431653.1:n.*905_*906insTGTT
ENST00000528374.1:c.458+41_458+42insTGTT
ENST00000531137.1:n.448_449insTGTT
ENST00000531891.1:c.356+41_356+42insTGTT
ENST00000532220.1:n.357_358insTGTT
NM_000352.4:c.3988+41_3988+42insTGTT	NP_000343.2:n.3988+41_3988+42insTGTT
NM_001287174.1:c.3991+41_3991+42insTGTT	NP_001274103.1:n.3991+41_3991+42insTGTT
XM_011520331.1:c.3988+41_3988+42insTGTT	XP_011518633.1:n.3988+41_3988+42insTGTT
XM_011520332.1:c.3991+41_3991+42insTGTT	XP_011518634.1:n.3991+41_3991+42insTGTT
XM_011520333.1:c.2488+41_2488+42insTGTT	XP_011518635.1:n.2488+41_2488+42insTGTT
XR_930890.1:n.4054+41_4054+42insTGTT
NM_001351295.1:c.4054+41_4054+42insTGTT	NP_001338224.1:n.4054+41_4054+42insTGTT
NM_001351296.1:c.3988+41_3988+42insTGTT	NP_001338225.1:n.3988+41_3988+42insTGTT
NM_001351297.1:c.3985+41_3985+42insTGTT	NP_001338226.1:n.3985+41_3985+42insTGTT
NR_147094.1:n.4178_4179insTGTT
XM_017018197.2:c.4057+41_4057+42insTGTT	XP_016873686.1:n.4057+41_4057+42insTGTT
XM_017018199.1:c.4054+41_4054+42insTGTT	XP_016873688.1:n.4054+41_4054+42insTGTT
XM_017018201.2:c.4057+41_4057+42insTGTT	XP_016873690.1:n.4057+41_4057+42insTGTT
XM_017018202.1:c.2554+41_2554+42insTGTT	XP_016873691.1:n.2554+41_2554+42insTGTT
XM_017018204.1:c.1945+41_1945+42insTGTT	XP_016873693.1:n.1945+41_1945+42insTGTT
XM_024448668.1:c.2356+41_2356+42insTGTT	XP_024304436.1:n.2356+41_2356+42insTGTT
XR_001747945.2:n.4129+41_4129+42insTGTT
XR_001747946.2:n.4060+41_4060+42insTGTT
XR_002957189.1:n.4620_4621insTGTT
NM_000352.6:c.3988+41_3988+42insTGTT MANE Select	NP_000343.2:n.3988+41_3988+42insTGTT
NM_001287174.2:c.3991+41_3991+42insTGTT	NP_001274103.1:n.3991+41_3991+42insTGTT
NM_001351295.2:c.4054+41_4054+42insTGTT	NP_001338224.1:n.4054+41_4054+42insTGTT
NM_001351296.2:c.3988+41_3988+42insTGTT	NP_001338225.1:n.3988+41_3988+42insTGTT
NM_001351297.2:c.3985+41_3985+42insTGTT	NP_001338226.1:n.3985+41_3985+42insTGTT
NR_147094.2:n.4178_4179insTGTT
NM_001287174.3:c.3991+41_3991+42insTGTT	NP_001274103.1:n.3991+41_3991+42insTGTT