Canonical Allele Identifier: CA1955123353

Gene: ABCC8

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17395887_17395890delinsGAGA , CM000673.2:g.17395887_17395890delinsGAGA	GRCh38
NC_000011.9:g.17417434_17417437delinsGAGA , CM000673.1:g.17417434_17417437delinsGAGA	GRCh37
NC_000011.8:g.17374010_17374013delinsGAGA	NCBI36
NG_008867.1:g.86013_86016delinsTCTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3761_3764delinsTCTC
ENST00000528374.2:c.751_754delinsTCTC
ENST00000529967.6:n.2499_2502delinsTCTC
ENST00000532220.2:n.3393_3396delinsTCTC
ENST00000642611.2:n.5360_5363delinsTCTC
ENST00000644057.2:n.603_606delinsTCTC
ENST00000645004.2:n.1659_1662delinsTCTC
ENST00000682051.1:n.4322_4325delinsTCTC
ENST00000682110.1:n.4375_4378delinsTCTC
ENST00000682140.1:c.4026_4029delinsTCTC	ENSP00000507829.1:p.Leu1342=
ENST00000682185.1:n.5465_5468delinsTCTC
ENST00000682204.1:c.*2298_*2301delinsTCTC	ENSP00000507094.1:n.*2298_*2301delinsTCTC
ENST00000682215.1:n.4742_4745delinsTCTC
ENST00000682288.1:c.*2591_*2594delinsTCTC	ENSP00000507506.1:n.*2591_*2594delinsTCTC
ENST00000682442.1:n.4595_4598delinsTCTC
ENST00000682528.1:n.4452_4455delinsTCTC
ENST00000682673.1:n.4319_4322delinsTCTC
ENST00000682805.1:n.4780_4783delinsTCTC
ENST00000682965.1:c.*582_*585delinsTCTC	ENSP00000508229.1:n.*582_*585delinsTCTC
ENST00000683093.1:n.5459_5462delinsTCTC
ENST00000683136.1:c.4043_4046delinsTCTC	ENSP00000507768.1:p.Phe1348=
ENST00000683153.1:n.4417_4420delinsTCTC
ENST00000683365.1:n.4477_4480delinsTCTC
ENST00000683377.1:n.4375_4378delinsTCTC
ENST00000683456.1:c.*1297_*1300delinsTCTC	ENSP00000508318.1:n.*1297_*1300delinsTCTC
ENST00000683522.1:n.4375_4378delinsTCTC
ENST00000683562.1:c.*2329_*2332delinsTCTC	ENSP00000508265.1:n.*2329_*2332delinsTCTC
ENST00000683693.1:n.5807_5810delinsTCTC
ENST00000683725.1:c.4160_4163delinsTCTC	ENSP00000507496.1:p.Phe1387=
ENST00000684010.1:n.4370_4373delinsTCTC
ENST00000684157.1:n.5360_5363delinsTCTC
ENST00000684253.1:n.4278_4281delinsTCTC
ENST00000684288.1:c.*2332_*2335delinsTCTC	ENSP00000507143.1:n.*2332_*2335delinsTCTC
ENST00000684313.1:n.3807_3810delinsTCTC
ENST00000684332.1:n.4448_4451delinsTCTC
ENST00000684371.1:n.4481_4484delinsTCTC
ENST00000684404.1:n.5403_5406delinsTCTC
ENST00000684442.1:n.4599_4602delinsTCTC
ENST00000684555.1:c.*2372_*2375delinsTCTC	ENSP00000507705.1:n.*2372_*2375delinsTCTC
ENST00000684571.1:c.4001_4004delinsTCTC	ENSP00000506935.1:p.Phe1334=
ENST00000684593.1:c.*3865_*3868delinsTCTC	ENSP00000507005.1:n.*3865_*3868delinsTCTC
ENST00000684711.1:c.*2556_*2559delinsTCTC	ENSP00000506841.1:n.*2556_*2559delinsTCTC
ENST00000302539.9:c.4163_4166delinsTCTC	ENSP00000303960.4:p.Phe1388=
ENST00000389817.8:c.4160_4163delinsTCTC MANE Select	ENSP00000374467.4:p.Phe1387=
ENST00000642271.1:c.4157_4160delinsTCTC	ENSP00000493749.1:p.Phe1386=
ENST00000642579.1:c.2214_2217delinsTCTC
ENST00000642611.1:n.5245_5248delinsTCTC
ENST00000642902.1:c.3942_3945delinsTCTC
ENST00000643260.1:c.4160_4163delinsTCTC	ENSP00000494450.1:p.Phe1387=
ENST00000643562.1:c.*2282_*2285delinsTCTC	ENSP00000496124.1:n.*2282_*2285delinsTCTC
ENST00000643925.1:c.2800_2803delinsTCTC
ENST00000644057.1:n.237_240delinsTCTC
ENST00000644484.1:c.*3546_*3549delinsTCTC	ENSP00000493558.1:n.*3546_*3549delinsTCTC
ENST00000644675.1:c.*2332_*2335delinsTCTC	ENSP00000494567.1:n.*2332_*2335delinsTCTC
ENST00000644757.1:c.*3202+374_*3202+377delinsTCTC	ENSP00000495085.1:n.*3202+374_*3202+377delinsTCTC
ENST00000644772.1:c.4226_4229delinsTCTC	ENSP00000494321.1:p.Phe1409=
ENST00000645004.1:n.1853_1856delinsTCTC
ENST00000645076.1:c.3359_3362delinsTCTC
ENST00000645417.1:c.1348_1351delinsTCTC
ENST00000645744.1:c.*3925_*3928delinsTCTC	ENSP00000494564.1:n.*3925_*3928delinsTCTC
ENST00000645760.1:c.4581_4584delinsTCTC
ENST00000645884.1:c.*1443_*1446delinsTCTC	ENSP00000495516.1:n.*1443_*1446delinsTCTC
ENST00000646003.1:c.*2262_*2265delinsTCTC	ENSP00000495259.1:n.*2262_*2265delinsTCTC
ENST00000646207.1:c.*2997_*3000delinsTCTC	ENSP00000495025.1:n.*2997_*3000delinsTCTC
ENST00000646276.1:c.*3564_*3567delinsTCTC	ENSP00000496070.1:n.*3564_*3567delinsTCTC
ENST00000646592.1:c.3466_3469delinsTCTC
ENST00000646902.1:c.4127_4130delinsTCTC	ENSP00000494101.1:p.Phe1376=
ENST00000646993.1:c.*2702_*2705delinsTCTC	ENSP00000493720.1:n.*2702_*2705delinsTCTC
ENST00000647013.1:c.4166_4169delinsTCTC	ENSP00000496741.1:n.4166_4169delinsTCTC
ENST00000647015.1:c.3911_3914delinsTCTC	ENSP00000495389.1:p.Phe1304=
ENST00000647086.1:c.*3746_*3749delinsTCTC	ENSP00000493677.1:n.*3746_*3749delinsTCTC
ENST00000647158.1:c.*2447_*2450delinsTCTC	ENSP00000495744.1:n.*2447_*2450delinsTCTC
ENST00000302539.8:c.4163_4166delinsTCTC	ENSP00000303960.4:p.Phe1388=
ENST00000389817.7:c.4160_4163delinsTCTC	ENSP00000374467.3:p.Phe1387=
ENST00000525022.1:n.26_29delinsTCTC
ENST00000526168.5:c.28_31delinsTCTC
NM_000352.4:c.4160_4163delinsTCTC	NP_000343.2:p.Phe1387=
NM_001287174.1:c.4163_4166delinsTCTC	NP_001274103.1:p.Phe1388=
XM_011520331.1:c.4160_4163delinsTCTC	XP_011518633.1:p.Phe1387=
XM_011520332.1:c.4163_4166delinsTCTC	XP_011518634.1:p.Phe1388=
XM_011520333.1:c.2660_2663delinsTCTC	XP_011518635.1:p.Phe887=
XR_930890.1:n.4226_4229delinsTCTC
NM_001351295.1:c.4226_4229delinsTCTC	NP_001338224.1:p.Phe1409=
NM_001351296.1:c.4160_4163delinsTCTC	NP_001338225.1:p.Phe1387=
NM_001351297.1:c.4157_4160delinsTCTC	NP_001338226.1:p.Phe1386=
NR_147094.1:n.4455_4458delinsTCTC
XM_017018197.2:c.4229_4232delinsTCTC	XP_016873686.1:p.Phe1410=
XM_017018199.1:c.4226_4229delinsTCTC	XP_016873688.1:p.Phe1409=
XM_017018201.2:c.4229_4232delinsTCTC	XP_016873690.1:p.Phe1410=
XM_017018202.1:c.2726_2729delinsTCTC	XP_016873691.1:p.Phe909=
XM_017018204.1:c.2117_2120delinsTCTC	XP_016873693.1:p.Phe706=
XM_024448668.1:c.2528_2531delinsTCTC	XP_024304436.1:p.Phe843=
XR_001747945.2:n.4301_4304delinsTCTC
XR_001747946.2:n.4232_4235delinsTCTC
XR_002957189.1:n.5882_5885delinsTCTC
NM_000352.6:c.4160_4163delinsTCTC MANE Select	NP_000343.2:p.Phe1387=
NM_001287174.2:c.4163_4166delinsTCTC	NP_001274103.1:p.Phe1388=
NM_001351295.2:c.4226_4229delinsTCTC	NP_001338224.1:p.Phe1409=
NM_001351296.2:c.4160_4163delinsTCTC	NP_001338225.1:p.Phe1387=
NM_001351297.2:c.4157_4160delinsTCTC	NP_001338226.1:p.Phe1386=
NR_147094.2:n.4455_4458delinsTCTC
NM_001287174.3:c.4163_4166delinsTCTC	NP_001274103.1:p.Phe1388=