Canonical Allele Identifier: CA218405954

Gene: ABCC8

Linked Data

• dbSNP Id: rs917897525
• gnomAD v3: 11-17393379-T-TCC
• gnomAD v4: 11-17393379-T-TCC
• MyVariant Identifiers: chr11:g.17414926_17414927insCC (hg19) ; chr11:g.17393379_17393380insCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17393380_17393381dup , CM000673.2:g.17393380_17393381dup	GRCh38
NC_000011.9:g.17414927_17414928dup , CM000673.1:g.17414927_17414928dup	GRCh37
NC_000011.8:g.17371503_17371504dup	NCBI36
NG_008867.1:g.88522_88523dup
NG_012446.1:g.279_280dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.4210-253_4210-252dup
ENST00000526037.6:n.544-253_544-252dup
ENST00000528374.2:c.1200-253_1200-252dup
ENST00000529967.6:n.2948-253_2948-252dup
ENST00000532220.2:n.3842-253_3842-252dup
ENST00000642611.2:n.5942-253_5942-252dup
ENST00000644057.2:n.1185-253_1185-252dup
ENST00000645004.2:n.2108-253_2108-252dup
ENST00000682051.1:n.4771-253_4771-252dup
ENST00000682110.1:n.4824-253_4824-252dup
ENST00000682140.1:c.*395-253_*395-252dup	ENSP00000507829.1:n.*395-253_*395-252dup
ENST00000682185.1:n.5914-253_5914-252dup
ENST00000682204.1:c.*2747-253_*2747-252dup	ENSP00000507094.1:n.*2747-253_*2747-252dup
ENST00000682215.1:n.5191-253_5191-252dup
ENST00000682288.1:c.*3040-253_*3040-252dup	ENSP00000507506.1:n.*3040-253_*3040-252dup
ENST00000682442.1:n.5044-253_5044-252dup
ENST00000682528.1:n.4901-253_4901-252dup
ENST00000682673.1:n.4768-253_4768-252dup
ENST00000682805.1:n.5229-253_5229-252dup
ENST00000682965.1:c.*1031-253_*1031-252dup	ENSP00000508229.1:n.*1031-253_*1031-252dup
ENST00000683093.1:n.5804-253_5804-252dup
ENST00000683136.1:c.4492-253_4492-252dup	ENSP00000507768.1:n.4492-253_4492-252dup
ENST00000683153.1:n.4866-253_4866-252dup
ENST00000683365.1:n.4926-253_4926-252dup
ENST00000683377.1:n.4720-253_4720-252dup
ENST00000683456.1:c.*1746-253_*1746-252dup	ENSP00000508318.1:n.*1746-253_*1746-252dup
ENST00000683522.1:n.4906-253_4906-252dup
ENST00000683562.1:c.*2674-253_*2674-252dup	ENSP00000508265.1:n.*2674-253_*2674-252dup
ENST00000683693.1:n.6285-253_6285-252dup
ENST00000683725.1:c.*74-253_*74-252dup	ENSP00000507496.1:n.*74-253_*74-252dup
ENST00000684010.1:n.4819-253_4819-252dup
ENST00000684014.1:n.796-253_796-252dup
ENST00000684157.1:n.5809-253_5809-252dup
ENST00000684253.1:n.4727-253_4727-252dup
ENST00000684288.1:c.*2781-253_*2781-252dup	ENSP00000507143.1:n.*2781-253_*2781-252dup
ENST00000684313.1:n.4256-253_4256-252dup
ENST00000684332.1:n.4897-253_4897-252dup
ENST00000684371.1:n.4930-253_4930-252dup
ENST00000684404.1:n.5852-253_5852-252dup
ENST00000684442.1:n.5048-253_5048-252dup
ENST00000684555.1:c.*2821-253_*2821-252dup	ENSP00000507705.1:n.*2821-253_*2821-252dup
ENST00000684571.1:c.4450-253_4450-252dup	ENSP00000506935.1:n.4450-253_4450-252dup
ENST00000684593.1:c.*4314-253_*4314-252dup	ENSP00000507005.1:n.*4314-253_*4314-252dup
ENST00000684711.1:c.*3005-253_*3005-252dup	ENSP00000506841.1:n.*3005-253_*3005-252dup
ENST00000302539.9:c.4612-253_4612-252dup	ENSP00000303960.4:n.4612-253_4612-252dup
ENST00000389817.8:c.4609-253_4609-252dup MANE Select	ENSP00000374467.4:n.4609-253_4609-252dup
ENST00000642271.1:c.4606-253_4606-252dup	ENSP00000493749.1:n.4606-253_4606-252dup
ENST00000642579.1:c.2663-253_2663-252dup
ENST00000642611.1:n.5827-253_5827-252dup
ENST00000642902.1:c.4391-253_4391-252dup
ENST00000643260.1:c.4609-253_4609-252dup	ENSP00000494450.1:n.4609-253_4609-252dup
ENST00000643562.1:c.*2731-253_*2731-252dup	ENSP00000496124.1:n.*2731-253_*2731-252dup
ENST00000643925.1:c.3186-253_3186-252dup
ENST00000644057.1:n.768-253_768-252dup
ENST00000644484.1:c.*3995-253_*3995-252dup	ENSP00000493558.1:n.*3995-253_*3995-252dup
ENST00000644675.1:c.*2781-253_*2781-252dup	ENSP00000494567.1:n.*2781-253_*2781-252dup
ENST00000644757.1:c.*3203-401_*3203-400dup	ENSP00000495085.1:n.*3203-401_*3203-400dup
ENST00000644772.1:c.4675-253_4675-252dup	ENSP00000494321.1:n.4675-253_4675-252dup
ENST00000645004.1:n.2302-253_2302-252dup
ENST00000645076.1:c.3704-253_3704-252dup
ENST00000645417.1:c.1797-253_1797-252dup
ENST00000645744.1:c.*4294-253_*4294-252dup	ENSP00000494564.1:n.*4294-253_*4294-252dup
ENST00000645760.1:c.5030-253_5030-252dup
ENST00000645884.1:c.*1892-253_*1892-252dup	ENSP00000495516.1:n.*1892-253_*1892-252dup
ENST00000646003.1:c.*2631-253_*2631-252dup	ENSP00000495259.1:n.*2631-253_*2631-252dup
ENST00000646207.1:c.*3446-253_*3446-252dup	ENSP00000495025.1:n.*3446-253_*3446-252dup
ENST00000646276.1:c.*4013-253_*4013-252dup	ENSP00000496070.1:n.*4013-253_*4013-252dup
ENST00000646592.1:c.3915-253_3915-252dup
ENST00000646902.1:c.4576-253_4576-252dup	ENSP00000494101.1:n.4576-253_4576-252dup
ENST00000646993.1:c.*3047-253_*3047-252dup	ENSP00000493720.1:n.*3047-253_*3047-252dup
ENST00000647015.1:c.4360-253_4360-252dup	ENSP00000495389.1:n.4360-253_4360-252dup
ENST00000647086.1:c.*4195-253_*4195-252dup	ENSP00000493677.1:n.*4195-253_*4195-252dup
ENST00000647158.1:c.*2896-253_*2896-252dup	ENSP00000495744.1:n.*2896-253_*2896-252dup
ENST00000302539.8:c.4612-253_4612-252dup	ENSP00000303960.4:n.4612-253_4612-252dup
ENST00000389817.7:c.4609-253_4609-252dup	ENSP00000374467.3:n.4609-253_4609-252dup
ENST00000525022.1:n.504-169_504-168dup
ENST00000526037.5:n.369-253_369-252dup
ENST00000526168.5:c.397-253_397-252dup
ENST00000531642.5:c.640-253_640-252dup
NM_000352.4:c.4609-253_4609-252dup	NP_000343.2:n.4609-253_4609-252dup
NM_001287174.1:c.4612-253_4612-252dup	NP_001274103.1:n.4612-253_4612-252dup
XM_011520331.1:c.4609-253_4609-252dup	XP_011518633.1:n.4609-253_4609-252dup
XM_011520333.1:c.3109-253_3109-252dup	XP_011518635.1:n.3109-253_3109-252dup
XR_930890.1:n.4571-253_4571-252dup
NM_001351295.1:c.4675-253_4675-252dup	NP_001338224.1:n.4675-253_4675-252dup
NM_001351296.1:c.4609-253_4609-252dup	NP_001338225.1:n.4609-253_4609-252dup
NM_001351297.1:c.4606-253_4606-252dup	NP_001338226.1:n.4606-253_4606-252dup
NR_147094.1:n.4904-253_4904-252dup
XM_017018197.2:c.4678-253_4678-252dup	XP_016873686.1:n.4678-253_4678-252dup
XM_017018199.1:c.4675-253_4675-252dup	XP_016873688.1:n.4675-253_4675-252dup
XM_017018202.1:c.3175-253_3175-252dup	XP_016873691.1:n.3175-253_3175-252dup
XM_017018204.1:c.2566-253_2566-252dup	XP_016873693.1:n.2566-253_2566-252dup
XM_024448668.1:c.2977-253_2977-252dup	XP_024304436.1:n.2977-253_2977-252dup
XR_001747945.2:n.4646-253_4646-252dup
XR_001747946.2:n.4577-253_4577-252dup
XR_002957189.1:n.6360-253_6360-252dup
NM_000352.6:c.4609-253_4609-252dup MANE Select	NP_000343.2:n.4609-253_4609-252dup
NM_001287174.2:c.4612-253_4612-252dup	NP_001274103.1:n.4612-253_4612-252dup
NM_001351295.2:c.4675-253_4675-252dup	NP_001338224.1:n.4675-253_4675-252dup
NM_001351296.2:c.4609-253_4609-252dup	NP_001338225.1:n.4609-253_4609-252dup
NM_001351297.2:c.4606-253_4606-252dup	NP_001338226.1:n.4606-253_4606-252dup
NR_147094.2:n.4904-253_4904-252dup
NM_001287174.3:c.4612-253_4612-252dup	NP_001274103.1:n.4612-253_4612-252dup