Canonical Allele Identifier: CA2612634686

Gene: ABCC8

Linked Data

• gnomAD v4: 11-17393276-T-TGGGGTGGATG

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17393277_17393286dup , CM000673.2:g.17393277_17393286dup	GRCh38
NC_000011.9:g.17414824_17414833dup , CM000673.1:g.17414824_17414833dup	GRCh37
NC_000011.8:g.17371400_17371409dup	NCBI36
NG_008867.1:g.88617_88626dup
NG_012446.1:g.374_383dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.4210-158_4210-149dup
ENST00000526037.6:n.544-158_544-149dup
ENST00000528374.2:c.1200-158_1200-149dup
ENST00000529967.6:n.2948-158_2948-149dup
ENST00000532220.2:n.3842-158_3842-149dup
ENST00000642611.2:n.5942-158_5942-149dup
ENST00000644057.2:n.1185-158_1185-149dup
ENST00000645004.2:n.2108-158_2108-149dup
ENST00000682051.1:n.4771-158_4771-149dup
ENST00000682110.1:n.4824-158_4824-149dup
ENST00000682140.1:c.*395-158_*395-149dup	ENSP00000507829.1:n.*395-158_*395-149dup
ENST00000682185.1:n.5914-158_5914-149dup
ENST00000682204.1:c.*2747-158_*2747-149dup	ENSP00000507094.1:n.*2747-158_*2747-149dup
ENST00000682215.1:n.5191-158_5191-149dup
ENST00000682288.1:c.*3040-158_*3040-149dup	ENSP00000507506.1:n.*3040-158_*3040-149dup
ENST00000682442.1:n.5044-158_5044-149dup
ENST00000682528.1:n.4901-158_4901-149dup
ENST00000682673.1:n.4768-158_4768-149dup
ENST00000682805.1:n.5229-158_5229-149dup
ENST00000682965.1:c.*1031-158_*1031-149dup	ENSP00000508229.1:n.*1031-158_*1031-149dup
ENST00000683093.1:n.5804-158_5804-149dup
ENST00000683136.1:c.4492-158_4492-149dup	ENSP00000507768.1:n.4492-158_4492-149dup
ENST00000683153.1:n.4866-158_4866-149dup
ENST00000683365.1:n.4926-158_4926-149dup
ENST00000683377.1:n.4720-158_4720-149dup
ENST00000683456.1:c.*1746-158_*1746-149dup	ENSP00000508318.1:n.*1746-158_*1746-149dup
ENST00000683522.1:n.4906-158_4906-149dup
ENST00000683562.1:c.*2674-158_*2674-149dup	ENSP00000508265.1:n.*2674-158_*2674-149dup
ENST00000683693.1:n.6285-158_6285-149dup
ENST00000683725.1:c.*74-158_*74-149dup	ENSP00000507496.1:n.*74-158_*74-149dup
ENST00000684010.1:n.4819-158_4819-149dup
ENST00000684014.1:n.796-158_796-149dup
ENST00000684157.1:n.5809-158_5809-149dup
ENST00000684253.1:n.4727-158_4727-149dup
ENST00000684288.1:c.*2781-158_*2781-149dup	ENSP00000507143.1:n.*2781-158_*2781-149dup
ENST00000684313.1:n.4256-158_4256-149dup
ENST00000684332.1:n.4897-158_4897-149dup
ENST00000684371.1:n.4930-158_4930-149dup
ENST00000684404.1:n.5852-158_5852-149dup
ENST00000684442.1:n.5048-158_5048-149dup
ENST00000684555.1:c.*2821-158_*2821-149dup	ENSP00000507705.1:n.*2821-158_*2821-149dup
ENST00000684571.1:c.4450-158_4450-149dup	ENSP00000506935.1:n.4450-158_4450-149dup
ENST00000684593.1:c.*4314-158_*4314-149dup	ENSP00000507005.1:n.*4314-158_*4314-149dup
ENST00000684711.1:c.*3005-158_*3005-149dup	ENSP00000506841.1:n.*3005-158_*3005-149dup
ENST00000302539.9:c.4612-158_4612-149dup	ENSP00000303960.4:n.4612-158_4612-149dup
ENST00000389817.8:c.4609-158_4609-149dup MANE Select	ENSP00000374467.4:n.4609-158_4609-149dup
ENST00000642271.1:c.4606-158_4606-149dup	ENSP00000493749.1:n.4606-158_4606-149dup
ENST00000642579.1:c.2663-158_2663-149dup
ENST00000642611.1:n.5827-158_5827-149dup
ENST00000642902.1:c.4391-158_4391-149dup
ENST00000643260.1:c.4609-158_4609-149dup	ENSP00000494450.1:n.4609-158_4609-149dup
ENST00000643562.1:c.*2731-158_*2731-149dup	ENSP00000496124.1:n.*2731-158_*2731-149dup
ENST00000643925.1:c.3186-158_3186-149dup
ENST00000644057.1:n.768-158_768-149dup
ENST00000644484.1:c.*3995-158_*3995-149dup	ENSP00000493558.1:n.*3995-158_*3995-149dup
ENST00000644675.1:c.*2781-158_*2781-149dup	ENSP00000494567.1:n.*2781-158_*2781-149dup
ENST00000644757.1:c.*3203-306_*3203-297dup	ENSP00000495085.1:n.*3203-306_*3203-297dup
ENST00000644772.1:c.4675-158_4675-149dup	ENSP00000494321.1:n.4675-158_4675-149dup
ENST00000645004.1:n.2302-158_2302-149dup
ENST00000645076.1:c.3704-158_3704-149dup
ENST00000645417.1:c.1797-158_1797-149dup
ENST00000645744.1:c.*4294-158_*4294-149dup	ENSP00000494564.1:n.*4294-158_*4294-149dup
ENST00000645760.1:c.5030-158_5030-149dup
ENST00000645884.1:c.*1892-158_*1892-149dup	ENSP00000495516.1:n.*1892-158_*1892-149dup
ENST00000646003.1:c.*2631-158_*2631-149dup	ENSP00000495259.1:n.*2631-158_*2631-149dup
ENST00000646207.1:c.*3446-158_*3446-149dup	ENSP00000495025.1:n.*3446-158_*3446-149dup
ENST00000646276.1:c.*4013-158_*4013-149dup	ENSP00000496070.1:n.*4013-158_*4013-149dup
ENST00000646592.1:c.3915-158_3915-149dup
ENST00000646902.1:c.4576-158_4576-149dup	ENSP00000494101.1:n.4576-158_4576-149dup
ENST00000646993.1:c.*3047-158_*3047-149dup	ENSP00000493720.1:n.*3047-158_*3047-149dup
ENST00000647015.1:c.4360-158_4360-149dup	ENSP00000495389.1:n.4360-158_4360-149dup
ENST00000647086.1:c.*4195-158_*4195-149dup	ENSP00000493677.1:n.*4195-158_*4195-149dup
ENST00000647158.1:c.*2896-158_*2896-149dup	ENSP00000495744.1:n.*2896-158_*2896-149dup
ENST00000302539.8:c.4612-158_4612-149dup	ENSP00000303960.4:n.4612-158_4612-149dup
ENST00000389817.7:c.4609-158_4609-149dup	ENSP00000374467.3:n.4609-158_4609-149dup
ENST00000525022.1:n.504-74_504-65dup
ENST00000526037.5:n.369-158_369-149dup
ENST00000526168.5:c.397-158_397-149dup
ENST00000531642.5:c.640-158_640-149dup
NM_000352.4:c.4609-158_4609-149dup	NP_000343.2:n.4609-158_4609-149dup
NM_001287174.1:c.4612-158_4612-149dup	NP_001274103.1:n.4612-158_4612-149dup
XM_011520331.1:c.4609-158_4609-149dup	XP_011518633.1:n.4609-158_4609-149dup
XM_011520333.1:c.3109-158_3109-149dup	XP_011518635.1:n.3109-158_3109-149dup
XR_930890.1:n.4571-158_4571-149dup
NM_001351295.1:c.4675-158_4675-149dup	NP_001338224.1:n.4675-158_4675-149dup
NM_001351296.1:c.4609-158_4609-149dup	NP_001338225.1:n.4609-158_4609-149dup
NM_001351297.1:c.4606-158_4606-149dup	NP_001338226.1:n.4606-158_4606-149dup
NR_147094.1:n.4904-158_4904-149dup
XM_017018197.2:c.4678-158_4678-149dup	XP_016873686.1:n.4678-158_4678-149dup
XM_017018199.1:c.4675-158_4675-149dup	XP_016873688.1:n.4675-158_4675-149dup
XM_017018202.1:c.3175-158_3175-149dup	XP_016873691.1:n.3175-158_3175-149dup
XM_017018204.1:c.2566-158_2566-149dup	XP_016873693.1:n.2566-158_2566-149dup
XM_024448668.1:c.2977-158_2977-149dup	XP_024304436.1:n.2977-158_2977-149dup
XR_001747945.2:n.4646-158_4646-149dup
XR_001747946.2:n.4577-158_4577-149dup
XR_002957189.1:n.6360-158_6360-149dup
NM_000352.6:c.4609-158_4609-149dup MANE Select	NP_000343.2:n.4609-158_4609-149dup
NM_001287174.2:c.4612-158_4612-149dup	NP_001274103.1:n.4612-158_4612-149dup
NM_001351295.2:c.4675-158_4675-149dup	NP_001338224.1:n.4675-158_4675-149dup
NM_001351296.2:c.4609-158_4609-149dup	NP_001338225.1:n.4609-158_4609-149dup
NM_001351297.2:c.4606-158_4606-149dup	NP_001338226.1:n.4606-158_4606-149dup
NR_147094.2:n.4904-158_4904-149dup
NM_001287174.3:c.4612-158_4612-149dup	NP_001274103.1:n.4612-158_4612-149dup