Canonical Allele Identifier: CA1955124009

Gene: ABCC8

Linked Data

• dbSNP Id: rs1953976416

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17397154_17397156del , CM000673.2:g.17397154_17397156del	GRCh38
NC_000011.9:g.17418701_17418703del , CM000673.1:g.17418701_17418703del	GRCh37
NC_000011.8:g.17375277_17375279del	NCBI36
NG_008867.1:g.84752_84754del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3485_3487del
ENST00000528374.2:c.567+42_567+44del
ENST00000529967.6:n.2327+42_2327+44del
ENST00000532220.2:n.2132_2134del
ENST00000642611.2:n.4099_4101del
ENST00000644057.2:n.431+42_431+44del
ENST00000645004.2:n.1487+42_1487+44del
ENST00000682051.1:n.4046_4048del
ENST00000682110.1:n.4099_4101del
ENST00000682140.1:c.3985+42_3985+44del	ENSP00000507829.1:n.3985+42_3985+44del
ENST00000682185.1:n.5293+42_5293+44del
ENST00000682204.1:c.*2126+42_*2126+44del	ENSP00000507094.1:n.*2126+42_*2126+44del
ENST00000682215.1:n.4466_4468del
ENST00000682288.1:c.*2419+42_*2419+44del	ENSP00000507506.1:n.*2419+42_*2419+44del
ENST00000682442.1:n.4319_4321del
ENST00000682528.1:n.4176_4178del
ENST00000682673.1:n.4043_4045del
ENST00000682805.1:n.4466_4468del
ENST00000682965.1:c.*410+42_*410+44del	ENSP00000508229.1:n.*410+42_*410+44del
ENST00000683093.1:n.4198_4200del
ENST00000683136.1:c.3871+42_3871+44del	ENSP00000507768.1:n.3871+42_3871+44del
ENST00000683153.1:n.4141_4143del
ENST00000683365.1:n.4201_4203del
ENST00000683377.1:n.4099_4101del
ENST00000683456.1:c.*1125+42_*1125+44del	ENSP00000508318.1:n.*1125+42_*1125+44del
ENST00000683522.1:n.4099_4101del
ENST00000683562.1:c.*2157+42_*2157+44del	ENSP00000508265.1:n.*2157+42_*2157+44del
ENST00000683693.1:n.4546_4548del
ENST00000683725.1:c.3988+42_3988+44del	ENSP00000507496.1:n.3988+42_3988+44del
ENST00000684010.1:n.4094_4096del
ENST00000684157.1:n.4099_4101del
ENST00000684253.1:n.4002_4004del
ENST00000684288.1:c.*2160+42_*2160+44del	ENSP00000507143.1:n.*2160+42_*2160+44del
ENST00000684313.1:n.3531_3533del
ENST00000684332.1:n.4172_4174del
ENST00000684371.1:n.4205_4207del
ENST00000684404.1:n.4142_4144del
ENST00000684442.1:n.4427+42_4427+44del
ENST00000684555.1:c.*2200+42_*2200+44del	ENSP00000507705.1:n.*2200+42_*2200+44del
ENST00000684571.1:c.3829+42_3829+44del	ENSP00000506935.1:n.3829+42_3829+44del
ENST00000684593.1:c.*3693+42_*3693+44del	ENSP00000507005.1:n.*3693+42_*3693+44del
ENST00000684711.1:c.*2384+42_*2384+44del	ENSP00000506841.1:n.*2384+42_*2384+44del
ENST00000302539.9:c.3991+42_3991+44del	ENSP00000303960.4:n.3991+42_3991+44del
ENST00000389817.8:c.3988+42_3988+44del MANE Select	ENSP00000374467.4:n.3988+42_3988+44del
ENST00000642271.1:c.3985+42_3985+44del	ENSP00000493749.1:n.3985+42_3985+44del
ENST00000642579.1:c.2072+42_2072+44del
ENST00000642611.1:n.3984_3986del
ENST00000642902.1:c.3770+42_3770+44del
ENST00000643260.1:c.3988+42_3988+44del	ENSP00000494450.1:n.3988+42_3988+44del
ENST00000643562.1:c.*2006_*2008del	ENSP00000496124.1:n.*2006_*2008del
ENST00000643925.1:c.2524_2526del
ENST00000644484.1:c.*2285_*2287del	ENSP00000493558.1:n.*2285_*2287del
ENST00000644675.1:c.*2160+42_*2160+44del	ENSP00000494567.1:n.*2160+42_*2160+44del
ENST00000644757.1:c.*2315_*2317del	ENSP00000495085.1:n.*2315_*2317del
ENST00000644772.1:c.4054+42_4054+44del	ENSP00000494321.1:n.4054+42_4054+44del
ENST00000645004.1:n.1539_1541del
ENST00000645076.1:c.3187+42_3187+44del
ENST00000645417.1:c.1176+42_1176+44del
ENST00000645744.1:c.*2664_*2666del	ENSP00000494564.1:n.*2664_*2666del
ENST00000645760.1:c.4305_4307del
ENST00000645884.1:c.*1167_*1169del	ENSP00000495516.1:n.*1167_*1169del
ENST00000646003.1:c.*1986_*1988del	ENSP00000495259.1:n.*1986_*1988del
ENST00000646207.1:c.*2825+42_*2825+44del	ENSP00000495025.1:n.*2825+42_*2825+44del
ENST00000646276.1:c.*2303_*2305del	ENSP00000496070.1:n.*2303_*2305del
ENST00000646592.1:c.3294+42_3294+44del
ENST00000646902.1:c.3985+42_3985+44del	ENSP00000494101.1:n.3985+42_3985+44del
ENST00000646993.1:c.*2426_*2428del	ENSP00000493720.1:n.*2426_*2428del
ENST00000647013.1:c.3994+42_3994+44del	ENSP00000496741.1:n.3994+42_3994+44del
ENST00000647015.1:c.3739+42_3739+44del	ENSP00000495389.1:n.3739+42_3739+44del
ENST00000647086.1:c.*3604+42_*3604+44del	ENSP00000493677.1:n.*3604+42_*3604+44del
ENST00000647158.1:c.*2171_*2173del	ENSP00000495744.1:n.*2171_*2173del
ENST00000302539.8:c.3991+42_3991+44del	ENSP00000303960.4:n.3991+42_3991+44del
ENST00000389817.7:c.3988+42_3988+44del	ENSP00000374467.3:n.3988+42_3988+44del
ENST00000527905.5:c.*906_*908del	ENSP00000431653.1:n.*906_*908del
ENST00000528374.1:c.458+42_458+44del
ENST00000531137.1:n.449_451del
ENST00000531891.1:c.356+42_356+44del
ENST00000532220.1:n.358_360del
NM_000352.4:c.3988+42_3988+44del	NP_000343.2:n.3988+42_3988+44del
NM_001287174.1:c.3991+42_3991+44del	NP_001274103.1:n.3991+42_3991+44del
XM_011520331.1:c.3988+42_3988+44del	XP_011518633.1:n.3988+42_3988+44del
XM_011520332.1:c.3991+42_3991+44del	XP_011518634.1:n.3991+42_3991+44del
XM_011520333.1:c.2488+42_2488+44del	XP_011518635.1:n.2488+42_2488+44del
XR_930890.1:n.4054+42_4054+44del
NM_001351295.1:c.4054+42_4054+44del	NP_001338224.1:n.4054+42_4054+44del
NM_001351296.1:c.3988+42_3988+44del	NP_001338225.1:n.3988+42_3988+44del
NM_001351297.1:c.3985+42_3985+44del	NP_001338226.1:n.3985+42_3985+44del
NR_147094.1:n.4179_4181del
XM_017018197.2:c.4057+42_4057+44del	XP_016873686.1:n.4057+42_4057+44del
XM_017018199.1:c.4054+42_4054+44del	XP_016873688.1:n.4054+42_4054+44del
XM_017018201.2:c.4057+42_4057+44del	XP_016873690.1:n.4057+42_4057+44del
XM_017018202.1:c.2554+42_2554+44del	XP_016873691.1:n.2554+42_2554+44del
XM_017018204.1:c.1945+42_1945+44del	XP_016873693.1:n.1945+42_1945+44del
XM_024448668.1:c.2356+42_2356+44del	XP_024304436.1:n.2356+42_2356+44del
XR_001747945.2:n.4129+42_4129+44del
XR_001747946.2:n.4060+42_4060+44del
XR_002957189.1:n.4621_4623del
NM_000352.6:c.3988+42_3988+44del MANE Select	NP_000343.2:n.3988+42_3988+44del
NM_001287174.2:c.3991+42_3991+44del	NP_001274103.1:n.3991+42_3991+44del
NM_001351295.2:c.4054+42_4054+44del	NP_001338224.1:n.4054+42_4054+44del
NM_001351296.2:c.3988+42_3988+44del	NP_001338225.1:n.3988+42_3988+44del
NM_001351297.2:c.3985+42_3985+44del	NP_001338226.1:n.3985+42_3985+44del
NR_147094.2:n.4179_4181del
NM_001287174.3:c.3991+42_3991+44del	NP_001274103.1:n.3991+42_3991+44del