Canonical Allele Identifier: CA2612634437

Gene: ABCC8

Linked Data

• gnomAD v4: 11-17393215-TGGAGGA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17393222_17393227del , CM000673.2:g.17393222_17393227del	GRCh38
NC_000011.9:g.17414769_17414774del , CM000673.1:g.17414769_17414774del	GRCh37
NC_000011.8:g.17371345_17371350del	NCBI36
NG_008867.1:g.88682_88687del
NG_012446.1:g.439_444del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.4210-93_4210-88del
ENST00000526037.6:n.544-93_544-88del
ENST00000528374.2:c.1200-93_1200-88del
ENST00000529967.6:n.2948-93_2948-88del
ENST00000532220.2:n.3842-93_3842-88del
ENST00000642611.2:n.5942-93_5942-88del
ENST00000644057.2:n.1185-93_1185-88del
ENST00000645004.2:n.2108-93_2108-88del
ENST00000682051.1:n.4771-93_4771-88del
ENST00000682110.1:n.4824-93_4824-88del
ENST00000682140.1:c.*395-93_*395-88del	ENSP00000507829.1:n.*395-93_*395-88del
ENST00000682185.1:n.5914-93_5914-88del
ENST00000682204.1:c.*2747-93_*2747-88del	ENSP00000507094.1:n.*2747-93_*2747-88del
ENST00000682215.1:n.5191-93_5191-88del
ENST00000682288.1:c.*3040-93_*3040-88del	ENSP00000507506.1:n.*3040-93_*3040-88del
ENST00000682442.1:n.5044-93_5044-88del
ENST00000682528.1:n.4901-93_4901-88del
ENST00000682673.1:n.4768-93_4768-88del
ENST00000682805.1:n.5229-93_5229-88del
ENST00000682965.1:c.*1031-93_*1031-88del	ENSP00000508229.1:n.*1031-93_*1031-88del
ENST00000683093.1:n.5804-93_5804-88del
ENST00000683136.1:c.4492-93_4492-88del	ENSP00000507768.1:n.4492-93_4492-88del
ENST00000683153.1:n.4866-93_4866-88del
ENST00000683365.1:n.4926-93_4926-88del
ENST00000683377.1:n.4720-93_4720-88del
ENST00000683456.1:c.*1746-93_*1746-88del	ENSP00000508318.1:n.*1746-93_*1746-88del
ENST00000683522.1:n.4906-93_4906-88del
ENST00000683562.1:c.*2674-93_*2674-88del	ENSP00000508265.1:n.*2674-93_*2674-88del
ENST00000683693.1:n.6285-93_6285-88del
ENST00000683725.1:c.*74-93_*74-88del	ENSP00000507496.1:n.*74-93_*74-88del
ENST00000684010.1:n.4819-93_4819-88del
ENST00000684014.1:n.796-93_796-88del
ENST00000684157.1:n.5809-93_5809-88del
ENST00000684253.1:n.4727-93_4727-88del
ENST00000684288.1:c.*2781-93_*2781-88del	ENSP00000507143.1:n.*2781-93_*2781-88del
ENST00000684313.1:n.4256-93_4256-88del
ENST00000684332.1:n.4897-93_4897-88del
ENST00000684371.1:n.4930-93_4930-88del
ENST00000684404.1:n.5852-93_5852-88del
ENST00000684442.1:n.5048-93_5048-88del
ENST00000684555.1:c.*2821-93_*2821-88del	ENSP00000507705.1:n.*2821-93_*2821-88del
ENST00000684571.1:c.4450-93_4450-88del	ENSP00000506935.1:n.4450-93_4450-88del
ENST00000684593.1:c.*4314-93_*4314-88del	ENSP00000507005.1:n.*4314-93_*4314-88del
ENST00000684711.1:c.*3005-93_*3005-88del	ENSP00000506841.1:n.*3005-93_*3005-88del
ENST00000302539.9:c.4612-93_4612-88del	ENSP00000303960.4:n.4612-93_4612-88del
ENST00000389817.8:c.4609-93_4609-88del MANE Select	ENSP00000374467.4:n.4609-93_4609-88del
ENST00000642271.1:c.4606-93_4606-88del	ENSP00000493749.1:n.4606-93_4606-88del
ENST00000642579.1:c.2663-93_2663-88del
ENST00000642611.1:n.5827-93_5827-88del
ENST00000642902.1:c.4391-93_4391-88del
ENST00000643260.1:c.4609-93_4609-88del	ENSP00000494450.1:n.4609-93_4609-88del
ENST00000643562.1:c.*2731-93_*2731-88del	ENSP00000496124.1:n.*2731-93_*2731-88del
ENST00000643925.1:c.3186-93_3186-88del
ENST00000644057.1:n.768-93_768-88del
ENST00000644484.1:c.*3995-93_*3995-88del	ENSP00000493558.1:n.*3995-93_*3995-88del
ENST00000644675.1:c.*2781-93_*2781-88del	ENSP00000494567.1:n.*2781-93_*2781-88del
ENST00000644757.1:c.*3203-241_*3203-236del	ENSP00000495085.1:n.*3203-241_*3203-236del
ENST00000644772.1:c.4675-93_4675-88del	ENSP00000494321.1:n.4675-93_4675-88del
ENST00000645004.1:n.2302-93_2302-88del
ENST00000645076.1:c.3704-93_3704-88del
ENST00000645417.1:c.1797-93_1797-88del
ENST00000645744.1:c.*4294-93_*4294-88del	ENSP00000494564.1:n.*4294-93_*4294-88del
ENST00000645760.1:c.5030-93_5030-88del
ENST00000645884.1:c.*1892-93_*1892-88del	ENSP00000495516.1:n.*1892-93_*1892-88del
ENST00000646003.1:c.*2631-93_*2631-88del	ENSP00000495259.1:n.*2631-93_*2631-88del
ENST00000646207.1:c.*3446-93_*3446-88del	ENSP00000495025.1:n.*3446-93_*3446-88del
ENST00000646276.1:c.*4013-93_*4013-88del	ENSP00000496070.1:n.*4013-93_*4013-88del
ENST00000646592.1:c.3915-93_3915-88del
ENST00000646902.1:c.4576-93_4576-88del	ENSP00000494101.1:n.4576-93_4576-88del
ENST00000646993.1:c.*3047-93_*3047-88del	ENSP00000493720.1:n.*3047-93_*3047-88del
ENST00000647015.1:c.4360-93_4360-88del	ENSP00000495389.1:n.4360-93_4360-88del
ENST00000647086.1:c.*4195-93_*4195-88del	ENSP00000493677.1:n.*4195-93_*4195-88del
ENST00000647158.1:c.*2896-93_*2896-88del	ENSP00000495744.1:n.*2896-93_*2896-88del
ENST00000302539.8:c.4612-93_4612-88del	ENSP00000303960.4:n.4612-93_4612-88del
ENST00000389817.7:c.4609-93_4609-88del	ENSP00000374467.3:n.4609-93_4609-88del
ENST00000525022.1:n.504-9_504-4del
ENST00000526037.5:n.369-93_369-88del
ENST00000526168.5:c.397-93_397-88del
ENST00000531642.5:c.640-93_640-88del
NM_000352.4:c.4609-93_4609-88del	NP_000343.2:n.4609-93_4609-88del
NM_001287174.1:c.4612-93_4612-88del	NP_001274103.1:n.4612-93_4612-88del
XM_011520331.1:c.4609-93_4609-88del	XP_011518633.1:n.4609-93_4609-88del
XM_011520333.1:c.3109-93_3109-88del	XP_011518635.1:n.3109-93_3109-88del
XR_930890.1:n.4571-93_4571-88del
NM_001351295.1:c.4675-93_4675-88del	NP_001338224.1:n.4675-93_4675-88del
NM_001351296.1:c.4609-93_4609-88del	NP_001338225.1:n.4609-93_4609-88del
NM_001351297.1:c.4606-93_4606-88del	NP_001338226.1:n.4606-93_4606-88del
NR_147094.1:n.4904-93_4904-88del
XM_017018197.2:c.4678-93_4678-88del	XP_016873686.1:n.4678-93_4678-88del
XM_017018199.1:c.4675-93_4675-88del	XP_016873688.1:n.4675-93_4675-88del
XM_017018202.1:c.3175-93_3175-88del	XP_016873691.1:n.3175-93_3175-88del
XM_017018204.1:c.2566-93_2566-88del	XP_016873693.1:n.2566-93_2566-88del
XM_024448668.1:c.2977-93_2977-88del	XP_024304436.1:n.2977-93_2977-88del
XR_001747945.2:n.4646-93_4646-88del
XR_001747946.2:n.4577-93_4577-88del
XR_002957189.1:n.6360-93_6360-88del
NM_000352.6:c.4609-93_4609-88del MANE Select	NP_000343.2:n.4609-93_4609-88del
NM_001287174.2:c.4612-93_4612-88del	NP_001274103.1:n.4612-93_4612-88del
NM_001351295.2:c.4675-93_4675-88del	NP_001338224.1:n.4675-93_4675-88del
NM_001351296.2:c.4609-93_4609-88del	NP_001338225.1:n.4609-93_4609-88del
NM_001351297.2:c.4606-93_4606-88del	NP_001338226.1:n.4606-93_4606-88del
NR_147094.2:n.4904-93_4904-88del
NM_001287174.3:c.4612-93_4612-88del	NP_001274103.1:n.4612-93_4612-88del