Canonical Allele Identifier: CA1955123992

Gene: ABCC8

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17397122_17397125delinsTCCC , CM000673.2:g.17397122_17397125delinsTCCC	GRCh38
NC_000011.9:g.17418669_17418672delinsTCCC , CM000673.1:g.17418669_17418672delinsTCCC	GRCh37
NC_000011.8:g.17375245_17375248delinsTCCC	NCBI36
NG_008867.1:g.84778_84781delinsGGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3511_3514delinsGGGA
ENST00000528374.2:c.568-67_568-64delinsGGGA
ENST00000529967.6:n.2327+68_2327+71delinsGGGA
ENST00000532220.2:n.2158_2161delinsGGGA
ENST00000642611.2:n.4125_4128delinsGGGA
ENST00000644057.2:n.431+68_431+71delinsGGGA
ENST00000645004.2:n.1487+68_1487+71delinsGGGA
ENST00000682051.1:n.4072_4075delinsGGGA
ENST00000682110.1:n.4125_4128delinsGGGA
ENST00000682140.1:c.3985+68_3985+71delinsGGGA	ENSP00000507829.1:n.3985+68_3985+71delinsGGGA
ENST00000682185.1:n.5293+68_5293+71delinsGGGA
ENST00000682204.1:c.*2126+68_*2126+71delinsGGGA	ENSP00000507094.1:n.*2126+68_*2126+71delinsGGGA
ENST00000682215.1:n.4492_4495delinsGGGA
ENST00000682288.1:c.*2419+68_*2419+71delinsGGGA	ENSP00000507506.1:n.*2419+68_*2419+71delinsGGGA
ENST00000682442.1:n.4345_4348delinsGGGA
ENST00000682528.1:n.4202_4205delinsGGGA
ENST00000682673.1:n.4069_4072delinsGGGA
ENST00000682805.1:n.4492_4495delinsGGGA
ENST00000682965.1:c.*410+68_*410+71delinsGGGA	ENSP00000508229.1:n.*410+68_*410+71delinsGGGA
ENST00000683093.1:n.4224_4227delinsGGGA
ENST00000683136.1:c.3871+68_3871+71delinsGGGA	ENSP00000507768.1:n.3871+68_3871+71delinsGGGA
ENST00000683153.1:n.4167_4170delinsGGGA
ENST00000683365.1:n.4227_4230delinsGGGA
ENST00000683377.1:n.4125_4128delinsGGGA
ENST00000683456.1:c.*1125+68_*1125+71delinsGGGA	ENSP00000508318.1:n.*1125+68_*1125+71delinsGGGA
ENST00000683522.1:n.4125_4128delinsGGGA
ENST00000683562.1:c.*2157+68_*2157+71delinsGGGA	ENSP00000508265.1:n.*2157+68_*2157+71delinsGGGA
ENST00000683693.1:n.4572_4575delinsGGGA
ENST00000683725.1:c.3988+68_3988+71delinsGGGA	ENSP00000507496.1:n.3988+68_3988+71delinsGGGA
ENST00000684010.1:n.4120_4123delinsGGGA
ENST00000684157.1:n.4125_4128delinsGGGA
ENST00000684253.1:n.4028_4031delinsGGGA
ENST00000684288.1:c.*2160+68_*2160+71delinsGGGA	ENSP00000507143.1:n.*2160+68_*2160+71delinsGGGA
ENST00000684313.1:n.3557_3560delinsGGGA
ENST00000684332.1:n.4198_4201delinsGGGA
ENST00000684371.1:n.4231_4234delinsGGGA
ENST00000684404.1:n.4168_4171delinsGGGA
ENST00000684442.1:n.4427+68_4427+71delinsGGGA
ENST00000684555.1:c.*2200+68_*2200+71delinsGGGA	ENSP00000507705.1:n.*2200+68_*2200+71delinsGGGA
ENST00000684571.1:c.3829+68_3829+71delinsGGGA	ENSP00000506935.1:n.3829+68_3829+71delinsGGGA
ENST00000684593.1:c.*3693+68_*3693+71delinsGGGA	ENSP00000507005.1:n.*3693+68_*3693+71delinsGGGA
ENST00000684711.1:c.*2384+68_*2384+71delinsGGGA	ENSP00000506841.1:n.*2384+68_*2384+71delinsGGGA
ENST00000302539.9:c.3991+68_3991+71delinsGGGA	ENSP00000303960.4:n.3991+68_3991+71delinsGGGA
ENST00000389817.8:c.3988+68_3988+71delinsGGGA MANE Select	ENSP00000374467.4:n.3988+68_3988+71delinsGGGA
ENST00000642271.1:c.3985+68_3985+71delinsGGGA	ENSP00000493749.1:n.3985+68_3985+71delinsGGGA
ENST00000642579.1:c.2072+68_2072+71delinsGGGA
ENST00000642611.1:n.4010_4013delinsGGGA
ENST00000642902.1:c.3770+68_3770+71delinsGGGA
ENST00000643260.1:c.3988+68_3988+71delinsGGGA	ENSP00000494450.1:n.3988+68_3988+71delinsGGGA
ENST00000643562.1:c.*2032_*2035delinsGGGA	ENSP00000496124.1:n.*2032_*2035delinsGGGA
ENST00000643925.1:c.2550_2553delinsGGGA
ENST00000644484.1:c.*2311_*2314delinsGGGA	ENSP00000493558.1:n.*2311_*2314delinsGGGA
ENST00000644675.1:c.*2160+68_*2160+71delinsGGGA	ENSP00000494567.1:n.*2160+68_*2160+71delinsGGGA
ENST00000644757.1:c.*2341_*2344delinsGGGA	ENSP00000495085.1:n.*2341_*2344delinsGGGA
ENST00000644772.1:c.4054+68_4054+71delinsGGGA	ENSP00000494321.1:n.4054+68_4054+71delinsGGGA
ENST00000645004.1:n.1565_1568delinsGGGA
ENST00000645076.1:c.3187+68_3187+71delinsGGGA
ENST00000645417.1:c.1176+68_1176+71delinsGGGA
ENST00000645744.1:c.*2690_*2693delinsGGGA	ENSP00000494564.1:n.*2690_*2693delinsGGGA
ENST00000645760.1:c.4331_4334delinsGGGA
ENST00000645884.1:c.*1193_*1196delinsGGGA	ENSP00000495516.1:n.*1193_*1196delinsGGGA
ENST00000646003.1:c.*2012_*2015delinsGGGA	ENSP00000495259.1:n.*2012_*2015delinsGGGA
ENST00000646207.1:c.*2825+68_*2825+71delinsGGGA	ENSP00000495025.1:n.*2825+68_*2825+71delinsGGGA
ENST00000646276.1:c.*2329_*2332delinsGGGA	ENSP00000496070.1:n.*2329_*2332delinsGGGA
ENST00000646592.1:c.3294+68_3294+71delinsGGGA
ENST00000646902.1:c.3985+68_3985+71delinsGGGA	ENSP00000494101.1:n.3985+68_3985+71delinsGGGA
ENST00000646993.1:c.*2452_*2455delinsGGGA	ENSP00000493720.1:n.*2452_*2455delinsGGGA
ENST00000647013.1:c.3994+68_3994+71delinsGGGA	ENSP00000496741.1:n.3994+68_3994+71delinsGGGA
ENST00000647015.1:c.3739+68_3739+71delinsGGGA	ENSP00000495389.1:n.3739+68_3739+71delinsGGGA
ENST00000647086.1:c.*3604+68_*3604+71delinsGGGA	ENSP00000493677.1:n.*3604+68_*3604+71delinsGGGA
ENST00000647158.1:c.*2197_*2200delinsGGGA	ENSP00000495744.1:n.*2197_*2200delinsGGGA
ENST00000302539.8:c.3991+68_3991+71delinsGGGA	ENSP00000303960.4:n.3991+68_3991+71delinsGGGA
ENST00000389817.7:c.3988+68_3988+71delinsGGGA	ENSP00000374467.3:n.3988+68_3988+71delinsGGGA
ENST00000527905.5:c.*932_*935delinsGGGA	ENSP00000431653.1:n.*932_*935delinsGGGA
ENST00000528374.1:c.459-67_459-64delinsGGGA
ENST00000531137.1:n.475_478delinsGGGA
ENST00000531891.1:c.356+68_356+71delinsGGGA
ENST00000532220.1:n.384_387delinsGGGA
NM_000352.4:c.3988+68_3988+71delinsGGGA	NP_000343.2:n.3988+68_3988+71delinsGGGA
NM_001287174.1:c.3991+68_3991+71delinsGGGA	NP_001274103.1:n.3991+68_3991+71delinsGGGA
XM_011520331.1:c.3988+68_3988+71delinsGGGA	XP_011518633.1:n.3988+68_3988+71delinsGGGA
XM_011520332.1:c.3991+68_3991+71delinsGGGA	XP_011518634.1:n.3991+68_3991+71delinsGGGA
XM_011520333.1:c.2488+68_2488+71delinsGGGA	XP_011518635.1:n.2488+68_2488+71delinsGGGA
XR_930890.1:n.4054+68_4054+71delinsGGGA
NM_001351295.1:c.4054+68_4054+71delinsGGGA	NP_001338224.1:n.4054+68_4054+71delinsGGGA
NM_001351296.1:c.3988+68_3988+71delinsGGGA	NP_001338225.1:n.3988+68_3988+71delinsGGGA
NM_001351297.1:c.3985+68_3985+71delinsGGGA	NP_001338226.1:n.3985+68_3985+71delinsGGGA
NR_147094.1:n.4205_4208delinsGGGA
XM_017018197.2:c.4057+68_4057+71delinsGGGA	XP_016873686.1:n.4057+68_4057+71delinsGGGA
XM_017018199.1:c.4054+68_4054+71delinsGGGA	XP_016873688.1:n.4054+68_4054+71delinsGGGA
XM_017018201.2:c.4057+68_4057+71delinsGGGA	XP_016873690.1:n.4057+68_4057+71delinsGGGA
XM_017018202.1:c.2554+68_2554+71delinsGGGA	XP_016873691.1:n.2554+68_2554+71delinsGGGA
XM_017018204.1:c.1945+68_1945+71delinsGGGA	XP_016873693.1:n.1945+68_1945+71delinsGGGA
XM_024448668.1:c.2356+68_2356+71delinsGGGA	XP_024304436.1:n.2356+68_2356+71delinsGGGA
XR_001747945.2:n.4129+68_4129+71delinsGGGA
XR_001747946.2:n.4060+68_4060+71delinsGGGA
XR_002957189.1:n.4647_4650delinsGGGA
NM_000352.6:c.3988+68_3988+71delinsGGGA MANE Select	NP_000343.2:n.3988+68_3988+71delinsGGGA
NM_001287174.2:c.3991+68_3991+71delinsGGGA	NP_001274103.1:n.3991+68_3991+71delinsGGGA
NM_001351295.2:c.4054+68_4054+71delinsGGGA	NP_001338224.1:n.4054+68_4054+71delinsGGGA
NM_001351296.2:c.3988+68_3988+71delinsGGGA	NP_001338225.1:n.3988+68_3988+71delinsGGGA
NM_001351297.2:c.3985+68_3985+71delinsGGGA	NP_001338226.1:n.3985+68_3985+71delinsGGGA
NR_147094.2:n.4205_4208delinsGGGA
NM_001287174.3:c.3991+68_3991+71delinsGGGA	NP_001274103.1:n.3991+68_3991+71delinsGGGA