Canonical Allele Identifier: CA2580082797

Gene: ABCC8

Linked Data

• ClinVar Variation Id: 1725278
• ClinVar RCV Id: RCV002308337

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17404560_17404561insT , CM000673.2:g.17404560_17404561insT	GRCh38
NC_000011.9:g.17426107_17426108insT , CM000673.1:g.17426107_17426108insT	GRCh37
NC_000011.8:g.17382683_17382684insT	NCBI36
NG_008867.1:g.77342_77343insA

Transcript Alleles

HGVS	Amino-acid change
ENST00000524561.2:n.3077_3078insA
ENST00000528374.2:c.87_88insA
ENST00000529967.6:n.1847_1848insA
ENST00000532220.2:n.1240_1241insA
ENST00000642611.2:n.3577_3578insA
ENST00000645004.2:n.1007_1008insA
ENST00000682051.1:n.3524_3525insA
ENST00000682110.1:n.3577_3578insA
ENST00000682140.1:c.3505_3506insA	ENSP00000507829.1:p.Leu1169HisfsTer24
ENST00000682185.1:n.4813_4814insA
ENST00000682204.1:c.*1646_*1647insA	ENSP00000507094.1:n.*1646_*1647insA
ENST00000682215.1:n.3574_3575insA
ENST00000682288.1:c.*1939_*1940insA	ENSP00000507506.1:n.*1939_*1940insA
ENST00000682442.1:n.3797_3798insA
ENST00000682528.1:n.3654_3655insA
ENST00000682673.1:n.3521_3522insA
ENST00000682805.1:n.3574_3575insA
ENST00000682965.1:c.3396+933_3396+934insA	ENSP00000508229.1:n.3396+933_3396+934insA...
ENST00000683093.1:n.3676_3677insA
ENST00000683136.1:c.3505_3506insA	ENSP00000507768.1:p.Leu1169HisfsTer24
ENST00000683153.1:n.3733_3734insA
ENST00000683365.1:n.3679_3680insA
ENST00000683377.1:n.3577_3578insA
ENST00000683456.1:c.*645_*646insA	ENSP00000508318.1:n.*645_*646insA
ENST00000683522.1:n.3577_3578insA
ENST00000683562.1:c.*1677_*1678insA	ENSP00000508265.1:n.*1677_*1678insA
ENST00000683693.1:n.3654_3655insA
ENST00000683725.1:c.3508_3509insA	ENSP00000507496.1:p.Leu1170HisfsTer24
ENST00000684010.1:n.3572_3573insA
ENST00000684157.1:n.3577_3578insA
ENST00000684253.1:n.3480_3481insA
ENST00000684288.1:c.*1680_*1681insA	ENSP00000507143.1:n.*1680_*1681insA
ENST00000684313.1:n.3009_3010insA
ENST00000684332.1:n.3650_3651insA
ENST00000684371.1:n.3683_3684insA
ENST00000684404.1:n.3620_3621insA
ENST00000684442.1:n.3577_3578insA
ENST00000684555.1:c.*1720_*1721insA	ENSP00000507705.1:n.*1720_*1721insA
ENST00000684571.1:c.3349_3350insA	ENSP00000506935.1:p.Leu1117HisfsTer24
ENST00000684593.1:c.*3213_*3214insA	ENSP00000507005.1:n.*3213_*3214insA
ENST00000684711.1:c.*1904_*1905insA	ENSP00000506841.1:n.*1904_*1905insA
ENST00000302539.9:c.3511_3512insA	ENSP00000303960.4:p.Leu1171HisfsTer24
ENST00000389817.8:c.3508_3509insA MANE Select	ENSP00000374467.4:p.Leu1170HisfsTer24
ENST00000642271.1:c.3505_3506insA	ENSP00000493749.1:p.Leu1169HisfsTer24
ENST00000642579.1:c.1592_1593insA
ENST00000642611.1:n.3462_3463insA
ENST00000642902.1:c.3290_3291insA
ENST00000643260.1:c.3508_3509insA	ENSP00000494450.1:p.Leu1170HisfsTer24
ENST00000643562.1:c.*1484_*1485insA	ENSP00000496124.1:n.*1484_*1485insA
ENST00000643925.1:c.1632_1633insA
ENST00000644447.1:c.1864_1865insA	ENSP00000496282.1:p.Leu622HisfsTer24
ENST00000644484.1:c.*1763_*1764insA	ENSP00000493558.1:n.*1763_*1764insA
ENST00000644675.1:c.*1680_*1681insA	ENSP00000494567.1:n.*1680_*1681insA
ENST00000644757.1:c.*1793_*1794insA	ENSP00000495085.1:n.*1793_*1794insA
ENST00000644772.1:c.3574_3575insA	ENSP00000494321.1:p.Leu1192HisfsTer24
ENST00000645004.1:n.647_648insA
ENST00000645076.1:c.2707_2708insA
ENST00000645417.1:c.674_675insA
ENST00000645744.1:c.*1772_*1773insA	ENSP00000494564.1:n.*1772_*1773insA
ENST00000645760.1:c.3783_3784insA
ENST00000645884.1:c.*645_*646insA	ENSP00000495516.1:n.*645_*646insA
ENST00000646003.1:c.*1464_*1465insA	ENSP00000495259.1:n.*1464_*1465insA
ENST00000646207.1:c.*1975_*1976insA	ENSP00000495025.1:n.*1975_*1976insA
ENST00000646276.1:c.*1781_*1782insA	ENSP00000496070.1:n.*1781_*1782insA
ENST00000646592.1:c.2814_2815insA
ENST00000646902.1:c.3505_3506insA	ENSP00000494101.1:p.Leu1169HisfsTer24
ENST00000646993.1:c.*1904_*1905insA	ENSP00000493720.1:n.*1904_*1905insA
ENST00000647013.1:c.3514_3515insA	ENSP00000496741.1:n.3514_3515insA
ENST00000647015.1:c.3259_3260insA	ENSP00000495389.1:p.Leu1087HisfsTer24
ENST00000647086.1:c.*3238_*3239insA	ENSP00000493677.1:n.*3238_*3239insA
ENST00000647158.1:c.*1649_*1650insA	ENSP00000495744.1:n.*1649_*1650insA
ENST00000302539.8:c.3511_3512insA	ENSP00000303960.4:p.Leu1171HisfsTer24
ENST00000389817.7:c.3508_3509insA	ENSP00000374467.3:p.Leu1170HisfsTer24
ENST00000524561.1:n.640_641insA
ENST00000527905.5:c.*384_*385insA	ENSP00000431653.1:n.*384_*385insA
ENST00000531137.1:n.1_2insA
NM_000352.4:c.3508_3509insA	NP_000343.2:p.Leu1170HisfsTer24
NM_001287174.1:c.3511_3512insA	NP_001274103.1:p.Leu1171HisfsTer24
XM_011520331.1:c.3508_3509insA	XP_011518633.1:p.Leu1170HisfsTer24
XM_011520332.1:c.3511_3512insA	XP_011518634.1:p.Leu1171HisfsTer24
XM_011520333.1:c.2008_2009insA	XP_011518635.1:p.Leu670HisfsTer24
XR_930890.1:n.3574_3575insA
XR_930892.1:n.3474_3475insA
XR_930893.1:n.3471_3472insA
NM_001351295.1:c.3574_3575insA	NP_001338224.1:p.Leu1192HisfsTer24
NM_001351296.1:c.3508_3509insA	NP_001338225.1:p.Leu1170HisfsTer24
NM_001351297.1:c.3505_3506insA	NP_001338226.1:p.Leu1169HisfsTer24
NR_147094.1:n.3657_3658insA
XM_017018197.2:c.3577_3578insA	XP_016873686.1:p.Leu1193HisfsTer24
XM_017018199.1:c.3574_3575insA	XP_016873688.1:p.Leu1192HisfsTer24
XM_017018201.2:c.3577_3578insA	XP_016873690.1:p.Leu1193HisfsTer24
XM_017018202.1:c.2074_2075insA	XP_016873691.1:p.Leu692HisfsTer24
XM_017018204.1:c.1465_1466insA	XP_016873693.1:p.Leu489HisfsTer24
XM_024448668.1:c.1876_1877insA	XP_024304436.1:p.Leu626HisfsTer24
XR_001747945.2:n.3649_3650insA
XR_001747946.2:n.3580_3581insA
XR_002957189.1:n.3729_3730insA
NM_000352.6:c.3508_3509insA MANE Select	NP_000343.2:p.Leu1170HisfsTer24
NM_001287174.2:c.3511_3512insA	NP_001274103.1:p.Leu1171HisfsTer24
NM_001351295.2:c.3574_3575insA	NP_001338224.1:p.Leu1192HisfsTer24
NM_001351296.2:c.3508_3509insA	NP_001338225.1:p.Leu1170HisfsTer24
NM_001351297.2:c.3505_3506insA	NP_001338226.1:p.Leu1169HisfsTer24
NR_147094.2:n.3657_3658insA
NM_001287174.3:c.3511_3512insA	NP_001274103.1:p.Leu1171HisfsTer24