Canonical Allele Identifier: CA1955153956

Gene: ABCC8

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17460519_17460520delinsAG , CM000673.2:g.17460519_17460520delinsAG	GRCh38
NC_000011.9:g.17482066_17482067delinsAG , CM000673.1:g.17482066_17482067delinsAG	GRCh37
NC_000011.8:g.17438642_17438643delinsAG	NCBI36
NG_008867.1:g.21383_21384delinsCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000524561.2:n.648+2918_648+2919delinsCT
ENST00000526002.2:n.992_993delinsCT
ENST00000528202.6:n.1045_1046delinsCT
ENST00000642611.2:n.1045_1046delinsCT
ENST00000682051.1:n.992_993delinsCT
ENST00000682091.1:n.1954_1955delinsCT
ENST00000682110.1:n.1045_1046delinsCT
ENST00000682140.1:c.976_977delinsCT	ENSP00000507829.1:p.Leu326=
ENST00000682199.1:n.1045_1046delinsCT
ENST00000682204.1:c.976_977delinsCT	ENSP00000507094.1:p.Leu326=
ENST00000682215.1:n.1045_1046delinsCT
ENST00000682288.1:c.976_977delinsCT	ENSP00000507506.1:p.Leu326=
ENST00000682442.1:n.1079_1080delinsCT
ENST00000682528.1:n.1045_1046delinsCT
ENST00000682673.1:n.992_993delinsCT
ENST00000682805.1:n.1045_1046delinsCT
ENST00000682863.1:n.1045_1046delinsCT
ENST00000682965.1:c.976_977delinsCT	ENSP00000508229.1:p.Leu326=
ENST00000683093.1:n.1045_1046delinsCT
ENST00000683136.1:c.976_977delinsCT	ENSP00000507768.1:p.Leu326=
ENST00000683153.1:n.1045_1046delinsCT
ENST00000683253.1:n.1959_1960delinsCT
ENST00000683365.1:n.1045_1046delinsCT
ENST00000683377.1:n.1045_1046delinsCT
ENST00000683456.1:c.976_977delinsCT	ENSP00000508318.1:p.Leu326=
ENST00000683522.1:n.1045_1046delinsCT
ENST00000683531.1:n.1048_1049delinsCT
ENST00000683562.1:c.979_980delinsCT	ENSP00000508265.1:p.Leu327=
ENST00000683693.1:n.1045_1046delinsCT
ENST00000683725.1:c.979_980delinsCT	ENSP00000507496.1:p.Leu327=
ENST00000683808.1:n.315_316delinsCT
ENST00000684010.1:n.1045_1046delinsCT
ENST00000684157.1:n.1045_1046delinsCT
ENST00000684221.1:n.1815_1816delinsCT
ENST00000684253.1:n.1097_1098delinsCT
ENST00000684288.1:c.979_980delinsCT	ENSP00000507143.1:p.Leu327=
ENST00000684313.1:n.1072_1073delinsCT
ENST00000684332.1:n.1045_1046delinsCT
ENST00000684371.1:n.992_993delinsCT
ENST00000684404.1:n.1045_1046delinsCT
ENST00000684442.1:n.1045_1046delinsCT
ENST00000684555.1:c.979_980delinsCT	ENSP00000507705.1:p.Leu327=
ENST00000684571.1:c.976_977delinsCT	ENSP00000506935.1:p.Leu326=
ENST00000684593.1:c.*684_*685delinsCT	ENSP00000507005.1:n.*684_*685delinsCT
ENST00000684711.1:c.976_977delinsCT	ENSP00000506841.1:p.Leu326=
ENST00000302539.9:c.979_980delinsCT	ENSP00000303960.4:p.Leu327=
ENST00000389817.8:c.979_980delinsCT MANE Select	ENSP00000374467.4:p.Leu327=
ENST00000532728.6:c.855_856delinsCT
ENST00000635881.1:n.1007_1008delinsCT
ENST00000642271.1:c.976_977delinsCT	ENSP00000493749.1:p.Leu326=
ENST00000642611.1:n.930_931delinsCT
ENST00000642902.1:c.960_961delinsCT
ENST00000643260.1:c.976_977delinsCT	ENSP00000494450.1:p.Leu326=
ENST00000643562.1:c.979_980delinsCT	ENSP00000496124.1:p.Leu327=
ENST00000644472.1:c.976_977delinsCT	ENSP00000495378.1:p.Leu326=
ENST00000644484.1:c.976_977delinsCT	ENSP00000493558.1:p.Leu326=
ENST00000644542.1:c.*681_*682delinsCT	ENSP00000495532.1:n.*681_*682delinsCT
ENST00000644649.1:c.29_30delinsCT
ENST00000644675.1:c.976_977delinsCT	ENSP00000494567.1:p.Leu326=
ENST00000644757.1:c.979_980delinsCT	ENSP00000495085.1:p.Leu327=
ENST00000644772.1:c.979_980delinsCT	ENSP00000494321.1:p.Leu327=
ENST00000645076.1:c.261_262delinsCT
ENST00000645744.1:c.976_977delinsCT	ENSP00000494564.1:p.Leu326=
ENST00000645760.1:c.1152_1153delinsCT
ENST00000645884.1:c.976_977delinsCT	ENSP00000495516.1:p.Leu326=
ENST00000646003.1:c.976_977delinsCT	ENSP00000495259.1:p.Leu326=
ENST00000646207.1:c.976_977delinsCT	ENSP00000495025.1:p.Leu326=
ENST00000646276.1:c.955_956delinsCT	ENSP00000496070.1:p.Leu319=
ENST00000646592.1:c.230_231delinsCT
ENST00000646737.1:c.*1073_*1074delinsCT	ENSP00000494874.1:n.*1073_*1074delinsCT
ENST00000646902.1:c.976_977delinsCT	ENSP00000494101.1:p.Leu326=
ENST00000646993.1:c.979_980delinsCT	ENSP00000493720.1:p.Leu327=
ENST00000647013.1:c.877_878delinsCT	ENSP00000496741.1:p.Leu293=
ENST00000647015.1:c.979_980delinsCT	ENSP00000495389.1:p.Leu327=
ENST00000647086.1:c.976_977delinsCT	ENSP00000493677.1:p.Leu326=
ENST00000647158.1:c.976_977delinsCT	ENSP00000495744.1:p.Leu326=
ENST00000302539.8:c.979_980delinsCT	ENSP00000303960.4:p.Leu327=
ENST00000389817.7:c.979_980delinsCT	ENSP00000374467.3:p.Leu327=
ENST00000527905.5:c.979_980delinsCT	ENSP00000431653.1:p.Leu327=
ENST00000532728.5:n.1010_1011delinsCT
NM_000352.4:c.979_980delinsCT	NP_000343.2:p.Leu327=
NM_001287174.1:c.979_980delinsCT	NP_001274103.1:p.Leu327=
XM_011520331.1:c.976_977delinsCT	XP_011518633.1:p.Leu326=
XM_011520332.1:c.979_980delinsCT	XP_011518634.1:p.Leu327=
XM_011520334.1:c.979_980delinsCT	XP_011518636.1:p.Leu327=
XR_930890.1:n.1042_1043delinsCT
XR_930891.1:n.1042_1043delinsCT
XR_930892.1:n.1042_1043delinsCT
XR_930893.1:n.1042_1043delinsCT
NM_001351295.1:c.979_980delinsCT	NP_001338224.1:p.Leu327=
NM_001351296.1:c.976_977delinsCT	NP_001338225.1:p.Leu326=
NM_001351297.1:c.976_977delinsCT	NP_001338226.1:p.Leu326=
NR_147094.1:n.1045_1046delinsCT
XM_017018197.2:c.979_980delinsCT	XP_016873686.1:p.Leu327=
XM_017018199.1:c.976_977delinsCT	XP_016873688.1:p.Leu326=
XM_017018201.2:c.979_980delinsCT	XP_016873690.1:p.Leu327=
XM_017018202.1:c.-539_-538delinsCT	XP_016873691.1:n.-539_-538delinsCT
XM_024448668.1:c.-759_-758delinsCT	XP_024304436.1:n.-759_-758delinsCT
XR_001747945.2:n.1051_1052delinsCT
XR_001747946.2:n.1051_1052delinsCT
XR_002957189.1:n.1051_1052delinsCT
NM_000352.6:c.979_980delinsCT MANE Select	NP_000343.2:p.Leu327=
NM_001287174.2:c.979_980delinsCT	NP_001274103.1:p.Leu327=
NM_001351295.2:c.979_980delinsCT	NP_001338224.1:p.Leu327=
NM_001351296.2:c.976_977delinsCT	NP_001338225.1:p.Leu326=
NM_001351297.2:c.976_977delinsCT	NP_001338226.1:p.Leu326=
NR_147094.2:n.1045_1046delinsCT
NM_001287174.3:c.979_980delinsCT	NP_001274103.1:p.Leu327=