Canonical Allele Identifier: CA2612661917

Gene: ABCC8

Linked Data

• gnomAD v4: 11-17412956-T-TTGTG

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17412958_17412961dup , CM000673.2:g.17412958_17412961dup	GRCh38
NC_000011.9:g.17434505_17434508dup , CM000673.1:g.17434505_17434508dup	GRCh37
NC_000011.8:g.17391081_17391084dup	NCBI36
NG_008867.1:g.68943_68946dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2145-214_2145-211dup
ENST00000529967.6:n.735-214_735-211dup
ENST00000642611.2:n.2545-214_2545-211dup
ENST00000682051.1:n.2492-214_2492-211dup
ENST00000682110.1:n.2545-214_2545-211dup
ENST00000682140.1:c.2473-214_2473-211dup	ENSP00000507829.1:n.2473-214_2473-211dup
ENST00000682185.1:n.3781-214_3781-211dup
ENST00000682204.1:c.*614-214_*614-211dup	ENSP00000507094.1:n.*614-214_*614-211dup
ENST00000682215.1:n.2542-214_2542-211dup
ENST00000682288.1:c.*907-214_*907-211dup	ENSP00000507506.1:n.*907-214_*907-211dup
ENST00000682442.1:n.2666-214_2666-211dup
ENST00000682528.1:n.2542-214_2542-211dup
ENST00000682673.1:n.2489-214_2489-211dup
ENST00000682805.1:n.2542-214_2542-211dup
ENST00000682965.1:c.2473-214_2473-211dup	ENSP00000508229.1:n.2473-214_2473-211dup
ENST00000683093.1:n.2644-214_2644-211dup
ENST00000683136.1:c.2473-214_2473-211dup	ENSP00000507768.1:n.2473-214_2473-211dup
ENST00000683153.1:n.2701-214_2701-211dup
ENST00000683365.1:n.2647-214_2647-211dup
ENST00000683377.1:n.2545-214_2545-211dup
ENST00000683456.1:c.2476-214_2476-211dup	ENSP00000508318.1:n.2476-214_2476-211dup
ENST00000683522.1:n.2545-214_2545-211dup
ENST00000683562.1:c.*645-214_*645-211dup	ENSP00000508265.1:n.*645-214_*645-211dup
ENST00000683693.1:n.2542-214_2542-211dup
ENST00000683725.1:c.2476-214_2476-211dup	ENSP00000507496.1:n.2476-214_2476-211dup
ENST00000684010.1:n.2460-214_2460-211dup
ENST00000684157.1:n.2545-214_2545-211dup
ENST00000684253.1:n.2448-214_2448-211dup
ENST00000684288.1:c.*648-214_*648-211dup	ENSP00000507143.1:n.*648-214_*648-211dup
ENST00000684313.1:n.1977-214_1977-211dup
ENST00000684332.1:n.2618-214_2618-211dup
ENST00000684371.1:n.2651-214_2651-211dup
ENST00000684404.1:n.2542-214_2542-211dup
ENST00000684442.1:n.2545-214_2545-211dup
ENST00000684555.1:c.*688-214_*688-211dup	ENSP00000507705.1:n.*688-214_*688-211dup
ENST00000684571.1:c.2317-214_2317-211dup	ENSP00000506935.1:n.2317-214_2317-211dup
ENST00000684593.1:c.*2181-214_*2181-211dup	ENSP00000507005.1:n.*2181-214_*2181-211dup
ENST00000684711.1:c.*872-214_*872-211dup	ENSP00000506841.1:n.*872-214_*872-211dup
ENST00000302539.9:c.2479-214_2479-211dup	ENSP00000303960.4:n.2479-214_2479-211dup
ENST00000389817.8:c.2476-214_2476-211dup MANE Select	ENSP00000374467.4:n.2476-214_2476-211dup
ENST00000642271.1:c.2473-214_2473-211dup	ENSP00000493749.1:n.2473-214_2473-211dup
ENST00000642579.1:c.560-214_560-211dup
ENST00000642611.1:n.2430-214_2430-211dup
ENST00000642902.1:c.2311-214_2311-211dup
ENST00000643260.1:c.2476-214_2476-211dup	ENSP00000494450.1:n.2476-214_2476-211dup
ENST00000643562.1:c.*452-214_*452-211dup	ENSP00000496124.1:n.*452-214_*452-211dup
ENST00000643925.1:c.433_436dup
ENST00000644447.1:c.832-214_832-211dup	ENSP00000496282.1:n.832-214_832-211dup
ENST00000644472.1:c.*837-214_*837-211dup	ENSP00000495378.1:n.*837-214_*837-211dup
ENST00000644484.1:c.*685-214_*685-211dup	ENSP00000493558.1:n.*685-214_*685-211dup
ENST00000644542.1:c.*2181-214_*2181-211dup	ENSP00000495532.1:n.*2181-214_*2181-211dup
ENST00000644675.1:c.*648-214_*648-211dup	ENSP00000494567.1:n.*648-214_*648-211dup
ENST00000644757.1:c.*781-214_*781-211dup	ENSP00000495085.1:n.*781-214_*781-211dup
ENST00000644772.1:c.2542-214_2542-211dup	ENSP00000494321.1:n.2542-214_2542-211dup
ENST00000645076.1:c.1728-214_1728-211dup
ENST00000645744.1:c.*840-214_*840-211dup	ENSP00000494564.1:n.*840-214_*840-211dup
ENST00000645760.1:c.2751-214_2751-211dup
ENST00000645884.1:c.2476-214_2476-211dup	ENSP00000495516.1:n.2476-214_2476-211dup
ENST00000646003.1:c.*532-214_*532-211dup	ENSP00000495259.1:n.*532-214_*532-211dup
ENST00000646207.1:c.*840-214_*840-211dup	ENSP00000495025.1:n.*840-214_*840-211dup
ENST00000646276.1:c.*749-214_*749-211dup	ENSP00000496070.1:n.*749-214_*749-211dup
ENST00000646592.1:c.1702-214_1702-211dup
ENST00000646902.1:c.2473-214_2473-211dup	ENSP00000494101.1:n.2473-214_2473-211dup
ENST00000646993.1:c.*872-214_*872-211dup	ENSP00000493720.1:n.*872-214_*872-211dup
ENST00000647013.1:c.2482-214_2482-211dup	ENSP00000496741.1:n.2482-214_2482-211dup
ENST00000647015.1:c.2227-214_2227-211dup	ENSP00000495389.1:n.2227-214_2227-211dup
ENST00000647086.1:c.*2206-214_*2206-211dup	ENSP00000493677.1:n.*2206-214_*2206-211dup
ENST00000647158.1:c.*617-214_*617-211dup	ENSP00000495744.1:n.*617-214_*617-211dup
ENST00000302539.8:c.2479-214_2479-211dup	ENSP00000303960.4:n.2479-214_2479-211dup
ENST00000389817.7:c.2476-214_2476-211dup	ENSP00000374467.3:n.2476-214_2476-211dup
ENST00000526921.5:n.160-214_160-211dup
ENST00000527905.5:c.2446-214_2446-211dup	ENSP00000431653.1:n.2446-214_2446-211dup
ENST00000529967.5:n.145-214_145-211dup
ENST00000530147.5:n.59-214_59-211dup
ENST00000531911.1:n.590-214_590-211dup
NM_000352.4:c.2476-214_2476-211dup	NP_000343.2:n.2476-214_2476-211dup
NM_001287174.1:c.2479-214_2479-211dup	NP_001274103.1:n.2479-214_2479-211dup
XM_011520331.1:c.2476-214_2476-211dup	XP_011518633.1:n.2476-214_2476-211dup
XM_011520332.1:c.2479-214_2479-211dup	XP_011518634.1:n.2479-214_2479-211dup
XM_011520333.1:c.976-214_976-211dup	XP_011518635.1:n.976-214_976-211dup
XM_011520334.1:c.2479-214_2479-211dup	XP_011518636.1:n.2479-214_2479-211dup
XR_930890.1:n.2542-214_2542-211dup
XR_930891.1:n.2542-214_2542-211dup
XR_930892.1:n.2542-214_2542-211dup
XR_930893.1:n.2539-214_2539-211dup
NM_001351295.1:c.2542-214_2542-211dup	NP_001338224.1:n.2542-214_2542-211dup
NM_001351296.1:c.2476-214_2476-211dup	NP_001338225.1:n.2476-214_2476-211dup
NM_001351297.1:c.2473-214_2473-211dup	NP_001338226.1:n.2473-214_2473-211dup
NR_147094.1:n.2545-214_2545-211dup
XM_017018197.2:c.2545-214_2545-211dup	XP_016873686.1:n.2545-214_2545-211dup
XM_017018199.1:c.2542-214_2542-211dup	XP_016873688.1:n.2542-214_2542-211dup
XM_017018201.2:c.2545-214_2545-211dup	XP_016873690.1:n.2545-214_2545-211dup
XM_017018202.1:c.1042-214_1042-211dup	XP_016873691.1:n.1042-214_1042-211dup
XM_017018204.1:c.433-214_433-211dup	XP_016873693.1:n.433-214_433-211dup
XM_024448668.1:c.844-214_844-211dup	XP_024304436.1:n.844-214_844-211dup
XR_001747945.2:n.2617-214_2617-211dup
XR_001747946.2:n.2548-214_2548-211dup
XR_002957189.1:n.2617-214_2617-211dup
NM_000352.6:c.2476-214_2476-211dup MANE Select	NP_000343.2:n.2476-214_2476-211dup
NM_001287174.2:c.2479-214_2479-211dup	NP_001274103.1:n.2479-214_2479-211dup
NM_001351295.2:c.2542-214_2542-211dup	NP_001338224.1:n.2542-214_2542-211dup
NM_001351296.2:c.2476-214_2476-211dup	NP_001338225.1:n.2476-214_2476-211dup
NM_001351297.2:c.2473-214_2473-211dup	NP_001338226.1:n.2473-214_2473-211dup
NR_147094.2:n.2545-214_2545-211dup
NM_001287174.3:c.2479-214_2479-211dup	NP_001274103.1:n.2479-214_2479-211dup