Canonical Allele Identifier: CA2612638714

Gene: ABCC8

Linked Data

• ClinVar Variation Id: 2735545
• ClinVar RCV Id: RCV003557568
• gnomAD v4: 11-17395632-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17395636del , CM000673.2:g.17395636del	GRCh38
NC_000011.9:g.17417183del , CM000673.1:g.17417183del	GRCh37
NC_000011.8:g.17373759del	NCBI36
NG_008867.1:g.86270del

Transcript Alleles

HGVS	Amino-acid change
ENST00000524561.2:n.3885del
ENST00000528374.2:c.875del
ENST00000529967.6:n.2623del
ENST00000532220.2:n.3517del
ENST00000642611.2:n.5617del
ENST00000644057.2:n.860del
ENST00000645004.2:n.1783del
ENST00000682051.1:n.4446del
ENST00000682110.1:n.4499del
ENST00000682140.1:c.*70del	ENSP00000507829.1:n.*70del
ENST00000682185.1:n.5589del
ENST00000682204.1:c.*2422del	ENSP00000507094.1:n.*2422del
ENST00000682215.1:n.4866del
ENST00000682288.1:c.*2715del	ENSP00000507506.1:n.*2715del
ENST00000682442.1:n.4719del
ENST00000682528.1:n.4576del
ENST00000682673.1:n.4443del
ENST00000682805.1:n.4904del
ENST00000682965.1:c.*706del	ENSP00000508229.1:n.*706del
ENST00000683093.1:n.5583del
ENST00000683136.1:c.4167del	ENSP00000507768.1:p.Val1390SerfsTer?
ENST00000683153.1:n.4541del
ENST00000683365.1:n.4601del
ENST00000683377.1:n.4499del
ENST00000683456.1:c.*1421del	ENSP00000508318.1:n.*1421del
ENST00000683522.1:n.4499del
ENST00000683562.1:c.*2453del	ENSP00000508265.1:n.*2453del
ENST00000683693.1:n.6064del
ENST00000683725.1:c.4284del	ENSP00000507496.1:p.Val1429SerfsTer?
ENST00000684010.1:n.4494del
ENST00000684157.1:n.5484del
ENST00000684253.1:n.4402del
ENST00000684288.1:c.*2456del	ENSP00000507143.1:n.*2456del
ENST00000684313.1:n.3931del
ENST00000684332.1:n.4572del
ENST00000684371.1:n.4605del
ENST00000684404.1:n.5527del
ENST00000684442.1:n.4723del
ENST00000684555.1:c.*2496del	ENSP00000507705.1:n.*2496del
ENST00000684571.1:c.4125del	ENSP00000506935.1:p.Val1376SerfsTer?
ENST00000684593.1:c.*3989del	ENSP00000507005.1:n.*3989del
ENST00000684711.1:c.*2680del	ENSP00000506841.1:n.*2680del
ENST00000302539.9:c.4287del	ENSP00000303960.4:p.Val1430SerfsTer?
ENST00000389817.8:c.4284del MANE Select	ENSP00000374467.4:p.Val1429SerfsTer?
ENST00000642271.1:c.4281del	ENSP00000493749.1:p.Val1428SerfsTer?
ENST00000642579.1:c.2338del
ENST00000642611.1:n.5502del
ENST00000642902.1:c.4066del
ENST00000643260.1:c.4284del	ENSP00000494450.1:p.Val1429SerfsTer?
ENST00000643562.1:c.*2406del	ENSP00000496124.1:n.*2406del
ENST00000643925.1:c.2924del
ENST00000644057.1:n.361del
ENST00000644484.1:c.*3670del	ENSP00000493558.1:n.*3670del
ENST00000644675.1:c.*2456del	ENSP00000494567.1:n.*2456del
ENST00000644757.1:c.*3202+631del	ENSP00000495085.1:n.*3202+631del
ENST00000644772.1:c.4350del	ENSP00000494321.1:p.Val1451SerfsTer?
ENST00000645004.1:n.1977del
ENST00000645076.1:c.3483del
ENST00000645417.1:c.1472del
ENST00000645744.1:c.*3969del	ENSP00000494564.1:n.*3969del
ENST00000645760.1:c.4705del
ENST00000645884.1:c.*1567del	ENSP00000495516.1:n.*1567del
ENST00000646003.1:c.*2306del	ENSP00000495259.1:n.*2306del
ENST00000646207.1:c.*3121del	ENSP00000495025.1:n.*3121del
ENST00000646276.1:c.*3688del	ENSP00000496070.1:n.*3688del
ENST00000646592.1:c.3590del
ENST00000646902.1:c.4251del	ENSP00000494101.1:p.Val1418SerfsTer?
ENST00000646993.1:c.*2826del	ENSP00000493720.1:n.*2826del
ENST00000647013.1:c.4290del	ENSP00000496741.1:n.4290del
ENST00000647015.1:c.4035del	ENSP00000495389.1:p.Val1346SerfsTer?
ENST00000647086.1:c.*3870del	ENSP00000493677.1:n.*3870del
ENST00000647158.1:c.*2571del	ENSP00000495744.1:n.*2571del
ENST00000302539.8:c.4287del	ENSP00000303960.4:p.Val1430SerfsTer?
ENST00000389817.7:c.4284del	ENSP00000374467.3:p.Val1429SerfsTer?
ENST00000525022.1:n.283del
ENST00000526037.5:n.148del
ENST00000526168.5:c.72del
ENST00000531642.5:c.120del
NM_000352.4:c.4284del	NP_000343.2:p.Val1429SerfsTer?
NM_001287174.1:c.4287del	NP_001274103.1:p.Val1430SerfsTer?
XM_011520331.1:c.4284del	XP_011518633.1:p.Val1429SerfsTer?
XM_011520332.1:c.4287del	XP_011518634.1:p.Val1430SerfsTer?
XM_011520333.1:c.2784del	XP_011518635.1:p.Val929SerfsTer?
XR_930890.1:n.4350del
NM_001351295.1:c.4350del	NP_001338224.1:p.Val1451SerfsTer?
NM_001351296.1:c.4284del	NP_001338225.1:p.Val1429SerfsTer?
NM_001351297.1:c.4281del	NP_001338226.1:p.Val1428SerfsTer?
NR_147094.1:n.4579del
XM_017018197.2:c.4353del	XP_016873686.1:p.Val1452SerfsTer?
XM_017018199.1:c.4350del	XP_016873688.1:p.Val1451SerfsTer?
XM_017018201.2:c.4353del	XP_016873690.1:p.Val1452SerfsTer?
XM_017018202.1:c.2850del	XP_016873691.1:p.Val951SerfsTer?
XM_017018204.1:c.2241del	XP_016873693.1:p.Val748SerfsTer?
XM_024448668.1:c.2652del	XP_024304436.1:p.Val885SerfsTer?
XR_001747945.2:n.4425del
XR_001747946.2:n.4356del
XR_002957189.1:n.6139del
NM_000352.6:c.4284del MANE Select	NP_000343.2:p.Val1429SerfsTer?
NM_001287174.2:c.4287del	NP_001274103.1:p.Val1430SerfsTer?
NM_001351295.2:c.4350del	NP_001338224.1:p.Val1451SerfsTer?
NM_001351296.2:c.4284del	NP_001338225.1:p.Val1429SerfsTer?
NM_001351297.2:c.4281del	NP_001338226.1:p.Val1428SerfsTer?
NR_147094.2:n.4579del
NM_001287174.3:c.4287del	NP_001274103.1:p.Val1430SerfsTer?