Canonical Allele Identifier: CA2612661944

Gene: ABCC8

Linked Data

• gnomAD v4: 11-17412978-CTGA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17412979_17412981del , CM000673.2:g.17412979_17412981del	GRCh38
NC_000011.9:g.17434526_17434528del , CM000673.1:g.17434526_17434528del	GRCh37
NC_000011.8:g.17391102_17391104del	NCBI36
NG_008867.1:g.68922_68924del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2145-235_2145-233del
ENST00000529967.6:n.735-235_735-233del
ENST00000642611.2:n.2545-235_2545-233del
ENST00000682051.1:n.2492-235_2492-233del
ENST00000682110.1:n.2545-235_2545-233del
ENST00000682140.1:c.2473-235_2473-233del	ENSP00000507829.1:n.2473-235_2473-233del
ENST00000682185.1:n.3781-235_3781-233del
ENST00000682204.1:c.*614-235_*614-233del	ENSP00000507094.1:n.*614-235_*614-233del
ENST00000682215.1:n.2542-235_2542-233del
ENST00000682288.1:c.*907-235_*907-233del	ENSP00000507506.1:n.*907-235_*907-233del
ENST00000682442.1:n.2666-235_2666-233del
ENST00000682528.1:n.2542-235_2542-233del
ENST00000682673.1:n.2489-235_2489-233del
ENST00000682805.1:n.2542-235_2542-233del
ENST00000682965.1:c.2473-235_2473-233del	ENSP00000508229.1:n.2473-235_2473-233del
ENST00000683093.1:n.2644-235_2644-233del
ENST00000683136.1:c.2473-235_2473-233del	ENSP00000507768.1:n.2473-235_2473-233del
ENST00000683153.1:n.2701-235_2701-233del
ENST00000683365.1:n.2647-235_2647-233del
ENST00000683377.1:n.2545-235_2545-233del
ENST00000683456.1:c.2476-235_2476-233del	ENSP00000508318.1:n.2476-235_2476-233del
ENST00000683522.1:n.2545-235_2545-233del
ENST00000683562.1:c.*645-235_*645-233del	ENSP00000508265.1:n.*645-235_*645-233del
ENST00000683693.1:n.2542-235_2542-233del
ENST00000683725.1:c.2476-235_2476-233del	ENSP00000507496.1:n.2476-235_2476-233del
ENST00000684010.1:n.2460-235_2460-233del
ENST00000684157.1:n.2545-235_2545-233del
ENST00000684253.1:n.2448-235_2448-233del
ENST00000684288.1:c.*648-235_*648-233del	ENSP00000507143.1:n.*648-235_*648-233del
ENST00000684313.1:n.1977-235_1977-233del
ENST00000684332.1:n.2618-235_2618-233del
ENST00000684371.1:n.2651-235_2651-233del
ENST00000684404.1:n.2542-235_2542-233del
ENST00000684442.1:n.2545-235_2545-233del
ENST00000684555.1:c.*688-235_*688-233del	ENSP00000507705.1:n.*688-235_*688-233del
ENST00000684571.1:c.2317-235_2317-233del	ENSP00000506935.1:n.2317-235_2317-233del
ENST00000684593.1:c.*2181-235_*2181-233del	ENSP00000507005.1:n.*2181-235_*2181-233del
ENST00000684711.1:c.*872-235_*872-233del	ENSP00000506841.1:n.*872-235_*872-233del
ENST00000302539.9:c.2479-235_2479-233del	ENSP00000303960.4:n.2479-235_2479-233del
ENST00000389817.8:c.2476-235_2476-233del MANE Select	ENSP00000374467.4:n.2476-235_2476-233del
ENST00000642271.1:c.2473-235_2473-233del	ENSP00000493749.1:n.2473-235_2473-233del
ENST00000642579.1:c.560-235_560-233del
ENST00000642611.1:n.2430-235_2430-233del
ENST00000642902.1:c.2311-235_2311-233del
ENST00000643260.1:c.2476-235_2476-233del	ENSP00000494450.1:n.2476-235_2476-233del
ENST00000643562.1:c.*452-235_*452-233del	ENSP00000496124.1:n.*452-235_*452-233del
ENST00000643925.1:c.416-4_416-2del
ENST00000644447.1:c.832-235_832-233del	ENSP00000496282.1:n.832-235_832-233del
ENST00000644472.1:c.*837-235_*837-233del	ENSP00000495378.1:n.*837-235_*837-233del
ENST00000644484.1:c.*685-235_*685-233del	ENSP00000493558.1:n.*685-235_*685-233del
ENST00000644542.1:c.*2181-235_*2181-233del	ENSP00000495532.1:n.*2181-235_*2181-233del
ENST00000644675.1:c.*648-235_*648-233del	ENSP00000494567.1:n.*648-235_*648-233del
ENST00000644757.1:c.*781-235_*781-233del	ENSP00000495085.1:n.*781-235_*781-233del
ENST00000644772.1:c.2542-235_2542-233del	ENSP00000494321.1:n.2542-235_2542-233del
ENST00000645076.1:c.1728-235_1728-233del
ENST00000645744.1:c.*840-235_*840-233del	ENSP00000494564.1:n.*840-235_*840-233del
ENST00000645760.1:c.2751-235_2751-233del
ENST00000645884.1:c.2476-235_2476-233del	ENSP00000495516.1:n.2476-235_2476-233del
ENST00000646003.1:c.*532-235_*532-233del	ENSP00000495259.1:n.*532-235_*532-233del
ENST00000646207.1:c.*840-235_*840-233del	ENSP00000495025.1:n.*840-235_*840-233del
ENST00000646276.1:c.*749-235_*749-233del	ENSP00000496070.1:n.*749-235_*749-233del
ENST00000646592.1:c.1702-235_1702-233del
ENST00000646902.1:c.2473-235_2473-233del	ENSP00000494101.1:n.2473-235_2473-233del
ENST00000646993.1:c.*872-235_*872-233del	ENSP00000493720.1:n.*872-235_*872-233del
ENST00000647013.1:c.2482-235_2482-233del	ENSP00000496741.1:n.2482-235_2482-233del
ENST00000647015.1:c.2227-235_2227-233del	ENSP00000495389.1:n.2227-235_2227-233del
ENST00000647086.1:c.*2206-235_*2206-233del	ENSP00000493677.1:n.*2206-235_*2206-233del
ENST00000647158.1:c.*617-235_*617-233del	ENSP00000495744.1:n.*617-235_*617-233del
ENST00000302539.8:c.2479-235_2479-233del	ENSP00000303960.4:n.2479-235_2479-233del
ENST00000389817.7:c.2476-235_2476-233del	ENSP00000374467.3:n.2476-235_2476-233del
ENST00000526921.5:n.160-235_160-233del
ENST00000527905.5:c.2446-235_2446-233del	ENSP00000431653.1:n.2446-235_2446-233del
ENST00000529967.5:n.145-235_145-233del
ENST00000530147.5:n.59-235_59-233del
ENST00000531911.1:n.590-235_590-233del
NM_000352.4:c.2476-235_2476-233del	NP_000343.2:n.2476-235_2476-233del
NM_001287174.1:c.2479-235_2479-233del	NP_001274103.1:n.2479-235_2479-233del
XM_011520331.1:c.2476-235_2476-233del	XP_011518633.1:n.2476-235_2476-233del
XM_011520332.1:c.2479-235_2479-233del	XP_011518634.1:n.2479-235_2479-233del
XM_011520333.1:c.976-235_976-233del	XP_011518635.1:n.976-235_976-233del
XM_011520334.1:c.2479-235_2479-233del	XP_011518636.1:n.2479-235_2479-233del
XR_930890.1:n.2542-235_2542-233del
XR_930891.1:n.2542-235_2542-233del
XR_930892.1:n.2542-235_2542-233del
XR_930893.1:n.2539-235_2539-233del
NM_001351295.1:c.2542-235_2542-233del	NP_001338224.1:n.2542-235_2542-233del
NM_001351296.1:c.2476-235_2476-233del	NP_001338225.1:n.2476-235_2476-233del
NM_001351297.1:c.2473-235_2473-233del	NP_001338226.1:n.2473-235_2473-233del
NR_147094.1:n.2545-235_2545-233del
XM_017018197.2:c.2545-235_2545-233del	XP_016873686.1:n.2545-235_2545-233del
XM_017018199.1:c.2542-235_2542-233del	XP_016873688.1:n.2542-235_2542-233del
XM_017018201.2:c.2545-235_2545-233del	XP_016873690.1:n.2545-235_2545-233del
XM_017018202.1:c.1042-235_1042-233del	XP_016873691.1:n.1042-235_1042-233del
XM_017018204.1:c.433-235_433-233del	XP_016873693.1:n.433-235_433-233del
XM_024448668.1:c.844-235_844-233del	XP_024304436.1:n.844-235_844-233del
XR_001747945.2:n.2617-235_2617-233del
XR_001747946.2:n.2548-235_2548-233del
XR_002957189.1:n.2617-235_2617-233del
NM_000352.6:c.2476-235_2476-233del MANE Select	NP_000343.2:n.2476-235_2476-233del
NM_001287174.2:c.2479-235_2479-233del	NP_001274103.1:n.2479-235_2479-233del
NM_001351295.2:c.2542-235_2542-233del	NP_001338224.1:n.2542-235_2542-233del
NM_001351296.2:c.2476-235_2476-233del	NP_001338225.1:n.2476-235_2476-233del
NM_001351297.2:c.2473-235_2473-233del	NP_001338226.1:n.2473-235_2473-233del
NR_147094.2:n.2545-235_2545-233del
NM_001287174.3:c.2479-235_2479-233del	NP_001274103.1:n.2479-235_2479-233del