Canonical Allele Identifier: CA2612634435

Gene: ABCC8

Linked Data

• gnomAD v4: 11-17393215-T-TGGA

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17393225_17393227dup , CM000673.2:g.17393225_17393227dup	GRCh38
NC_000011.9:g.17414772_17414774dup , CM000673.1:g.17414772_17414774dup	GRCh37
NC_000011.8:g.17371348_17371350dup	NCBI36
NG_008867.1:g.88685_88687dup
NG_012446.1:g.442_444dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.4210-90_4210-88dup
ENST00000526037.6:n.544-90_544-88dup
ENST00000528374.2:c.1200-90_1200-88dup
ENST00000529967.6:n.2948-90_2948-88dup
ENST00000532220.2:n.3842-90_3842-88dup
ENST00000642611.2:n.5942-90_5942-88dup
ENST00000644057.2:n.1185-90_1185-88dup
ENST00000645004.2:n.2108-90_2108-88dup
ENST00000682051.1:n.4771-90_4771-88dup
ENST00000682110.1:n.4824-90_4824-88dup
ENST00000682140.1:c.*395-90_*395-88dup	ENSP00000507829.1:n.*395-90_*395-88dup
ENST00000682185.1:n.5914-90_5914-88dup
ENST00000682204.1:c.*2747-90_*2747-88dup	ENSP00000507094.1:n.*2747-90_*2747-88dup
ENST00000682215.1:n.5191-90_5191-88dup
ENST00000682288.1:c.*3040-90_*3040-88dup	ENSP00000507506.1:n.*3040-90_*3040-88dup
ENST00000682442.1:n.5044-90_5044-88dup
ENST00000682528.1:n.4901-90_4901-88dup
ENST00000682673.1:n.4768-90_4768-88dup
ENST00000682805.1:n.5229-90_5229-88dup
ENST00000682965.1:c.*1031-90_*1031-88dup	ENSP00000508229.1:n.*1031-90_*1031-88dup
ENST00000683093.1:n.5804-90_5804-88dup
ENST00000683136.1:c.4492-90_4492-88dup	ENSP00000507768.1:n.4492-90_4492-88dup
ENST00000683153.1:n.4866-90_4866-88dup
ENST00000683365.1:n.4926-90_4926-88dup
ENST00000683377.1:n.4720-90_4720-88dup
ENST00000683456.1:c.*1746-90_*1746-88dup	ENSP00000508318.1:n.*1746-90_*1746-88dup
ENST00000683522.1:n.4906-90_4906-88dup
ENST00000683562.1:c.*2674-90_*2674-88dup	ENSP00000508265.1:n.*2674-90_*2674-88dup
ENST00000683693.1:n.6285-90_6285-88dup
ENST00000683725.1:c.*74-90_*74-88dup	ENSP00000507496.1:n.*74-90_*74-88dup
ENST00000684010.1:n.4819-90_4819-88dup
ENST00000684014.1:n.796-90_796-88dup
ENST00000684157.1:n.5809-90_5809-88dup
ENST00000684253.1:n.4727-90_4727-88dup
ENST00000684288.1:c.*2781-90_*2781-88dup	ENSP00000507143.1:n.*2781-90_*2781-88dup
ENST00000684313.1:n.4256-90_4256-88dup
ENST00000684332.1:n.4897-90_4897-88dup
ENST00000684371.1:n.4930-90_4930-88dup
ENST00000684404.1:n.5852-90_5852-88dup
ENST00000684442.1:n.5048-90_5048-88dup
ENST00000684555.1:c.*2821-90_*2821-88dup	ENSP00000507705.1:n.*2821-90_*2821-88dup
ENST00000684571.1:c.4450-90_4450-88dup	ENSP00000506935.1:n.4450-90_4450-88dup
ENST00000684593.1:c.*4314-90_*4314-88dup	ENSP00000507005.1:n.*4314-90_*4314-88dup
ENST00000684711.1:c.*3005-90_*3005-88dup	ENSP00000506841.1:n.*3005-90_*3005-88dup
ENST00000302539.9:c.4612-90_4612-88dup	ENSP00000303960.4:n.4612-90_4612-88dup
ENST00000389817.8:c.4609-90_4609-88dup MANE Select	ENSP00000374467.4:n.4609-90_4609-88dup
ENST00000642271.1:c.4606-90_4606-88dup	ENSP00000493749.1:n.4606-90_4606-88dup
ENST00000642579.1:c.2663-90_2663-88dup
ENST00000642611.1:n.5827-90_5827-88dup
ENST00000642902.1:c.4391-90_4391-88dup
ENST00000643260.1:c.4609-90_4609-88dup	ENSP00000494450.1:n.4609-90_4609-88dup
ENST00000643562.1:c.*2731-90_*2731-88dup	ENSP00000496124.1:n.*2731-90_*2731-88dup
ENST00000643925.1:c.3186-90_3186-88dup
ENST00000644057.1:n.768-90_768-88dup
ENST00000644484.1:c.*3995-90_*3995-88dup	ENSP00000493558.1:n.*3995-90_*3995-88dup
ENST00000644675.1:c.*2781-90_*2781-88dup	ENSP00000494567.1:n.*2781-90_*2781-88dup
ENST00000644757.1:c.*3203-238_*3203-236dup	ENSP00000495085.1:n.*3203-238_*3203-236dup
ENST00000644772.1:c.4675-90_4675-88dup	ENSP00000494321.1:n.4675-90_4675-88dup
ENST00000645004.1:n.2302-90_2302-88dup
ENST00000645076.1:c.3704-90_3704-88dup
ENST00000645417.1:c.1797-90_1797-88dup
ENST00000645744.1:c.*4294-90_*4294-88dup	ENSP00000494564.1:n.*4294-90_*4294-88dup
ENST00000645760.1:c.5030-90_5030-88dup
ENST00000645884.1:c.*1892-90_*1892-88dup	ENSP00000495516.1:n.*1892-90_*1892-88dup
ENST00000646003.1:c.*2631-90_*2631-88dup	ENSP00000495259.1:n.*2631-90_*2631-88dup
ENST00000646207.1:c.*3446-90_*3446-88dup	ENSP00000495025.1:n.*3446-90_*3446-88dup
ENST00000646276.1:c.*4013-90_*4013-88dup	ENSP00000496070.1:n.*4013-90_*4013-88dup
ENST00000646592.1:c.3915-90_3915-88dup
ENST00000646902.1:c.4576-90_4576-88dup	ENSP00000494101.1:n.4576-90_4576-88dup
ENST00000646993.1:c.*3047-90_*3047-88dup	ENSP00000493720.1:n.*3047-90_*3047-88dup
ENST00000647015.1:c.4360-90_4360-88dup	ENSP00000495389.1:n.4360-90_4360-88dup
ENST00000647086.1:c.*4195-90_*4195-88dup	ENSP00000493677.1:n.*4195-90_*4195-88dup
ENST00000647158.1:c.*2896-90_*2896-88dup	ENSP00000495744.1:n.*2896-90_*2896-88dup
ENST00000302539.8:c.4612-90_4612-88dup	ENSP00000303960.4:n.4612-90_4612-88dup
ENST00000389817.7:c.4609-90_4609-88dup	ENSP00000374467.3:n.4609-90_4609-88dup
ENST00000525022.1:n.504-6_504-4dup
ENST00000526037.5:n.369-90_369-88dup
ENST00000526168.5:c.397-90_397-88dup
ENST00000531642.5:c.640-90_640-88dup
NM_000352.4:c.4609-90_4609-88dup	NP_000343.2:n.4609-90_4609-88dup
NM_001287174.1:c.4612-90_4612-88dup	NP_001274103.1:n.4612-90_4612-88dup
XM_011520331.1:c.4609-90_4609-88dup	XP_011518633.1:n.4609-90_4609-88dup
XM_011520333.1:c.3109-90_3109-88dup	XP_011518635.1:n.3109-90_3109-88dup
XR_930890.1:n.4571-90_4571-88dup
NM_001351295.1:c.4675-90_4675-88dup	NP_001338224.1:n.4675-90_4675-88dup
NM_001351296.1:c.4609-90_4609-88dup	NP_001338225.1:n.4609-90_4609-88dup
NM_001351297.1:c.4606-90_4606-88dup	NP_001338226.1:n.4606-90_4606-88dup
NR_147094.1:n.4904-90_4904-88dup
XM_017018197.2:c.4678-90_4678-88dup	XP_016873686.1:n.4678-90_4678-88dup
XM_017018199.1:c.4675-90_4675-88dup	XP_016873688.1:n.4675-90_4675-88dup
XM_017018202.1:c.3175-90_3175-88dup	XP_016873691.1:n.3175-90_3175-88dup
XM_017018204.1:c.2566-90_2566-88dup	XP_016873693.1:n.2566-90_2566-88dup
XM_024448668.1:c.2977-90_2977-88dup	XP_024304436.1:n.2977-90_2977-88dup
XR_001747945.2:n.4646-90_4646-88dup
XR_001747946.2:n.4577-90_4577-88dup
XR_002957189.1:n.6360-90_6360-88dup
NM_000352.6:c.4609-90_4609-88dup MANE Select	NP_000343.2:n.4609-90_4609-88dup
NM_001287174.2:c.4612-90_4612-88dup	NP_001274103.1:n.4612-90_4612-88dup
NM_001351295.2:c.4675-90_4675-88dup	NP_001338224.1:n.4675-90_4675-88dup
NM_001351296.2:c.4609-90_4609-88dup	NP_001338225.1:n.4609-90_4609-88dup
NM_001351297.2:c.4606-90_4606-88dup	NP_001338226.1:n.4606-90_4606-88dup
NR_147094.2:n.4904-90_4904-88dup
NM_001287174.3:c.4612-90_4612-88dup	NP_001274103.1:n.4612-90_4612-88dup