Canonical Allele Identifier: CA16041452
Gene: ABCC8 HGNC NCBI

Linked Data

ClinVar Variation Id: 370657
ClinVar RCV Id: RCV000409385 RCV002266960 RCV002266961
dbSNP Id: rs1057516665
MyVariant Identifiers: chr11:g.17464293_17464294insT (hg19) chr11:g.17442746_17442747insT (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17442746_17442747insT , CM000673.2:g.17442746_17442747insT GRCh38
NC_000011.9:g.17464293_17464294insT , CM000673.1:g.17464293_17464294insT GRCh37
NC_000011.8:g.17420869_17420870insT NCBI36
NG_008867.1:g.39156_39157insA

Transcript Alleles

HGVS Amino-acid change
ENST00000524561.2:n.1240_1241insA
ENST00000526002.2:n.1630_1631insA
ENST00000528202.6:n.1669_1670insA
ENST00000642611.2:n.1669_1670insA
ENST00000682051.1:n.1616_1617insA
ENST00000682110.1:n.1669_1670insA
ENST00000682140.1:c.1600_1601insA ENSP00000507829.1:p.Ala534AspfsTer?
ENST00000682185.1:n.2908_2909insA
ENST00000682199.1:n.1669_1670insA
ENST00000682204.1:c.1600_1601insA ENSP00000507094.1:p.Ala534AspfsTer28
ENST00000682215.1:n.1669_1670insA
ENST00000682288.1:c.1600_1601insA ENSP00000507506.1:p.Ala534AspfsTer?
ENST00000682442.1:n.1717_1718insA
ENST00000682528.1:n.1669_1670insA
ENST00000682673.1:n.1616_1617insA
ENST00000682805.1:n.1669_1670insA
ENST00000682965.1:c.1600_1601insA ENSP00000508229.1:p.Ala534AspfsTer?
ENST00000683093.1:n.1669_1670insA
ENST00000683136.1:c.1600_1601insA ENSP00000507768.1:p.Ala534AspfsTer?
ENST00000683153.1:n.1669_1670insA
ENST00000683253.1:n.2583_2584insA
ENST00000683365.1:n.1669_1670insA
ENST00000683377.1:n.1669_1670insA
ENST00000683456.1:c.1600_1601insA ENSP00000508318.1:p.Ala534AspfsTer?
ENST00000683522.1:n.1669_1670insA
ENST00000683531.1:n.1672_1673insA
ENST00000683562.1:c.1603_1604insA ENSP00000508265.1:p.Ala535AspfsTer?
ENST00000683693.1:n.1669_1670insA
ENST00000683725.1:c.1603_1604insA ENSP00000507496.1:p.Ala535AspfsTer?
ENST00000684010.1:n.1669_1670insA
ENST00000684157.1:n.1669_1670insA
ENST00000684253.1:n.1721_1722insA
ENST00000684288.1:c.1603_1604insA ENSP00000507143.1:p.Ala535AspfsTer?
ENST00000684313.1:n.1696_1697insA
ENST00000684332.1:n.1669_1670insA
ENST00000684371.1:n.1616_1617insA
ENST00000684404.1:n.1669_1670insA
ENST00000684442.1:n.1669_1670insA
ENST00000684555.1:c.1603_1604insA ENSP00000507705.1:p.Ala535AspfsTer?
ENST00000684571.1:c.1444_1445insA ENSP00000506935.1:p.Ala482AspfsTer?
ENST00000684593.1:c.*1308_*1309insA ENSP00000507005.1:n.*1308_*1309insA
ENST00000684711.1:c.1600_1601insA ENSP00000506841.1:p.Ala534AspfsTer?
ENST00000302539.9:c.1603_1604insA ENSP00000303960.4:p.Ala535AspfsTer?
ENST00000389817.8:c.1603_1604insA MANE Select ENSP00000374467.4:p.Ala535AspfsTer?
ENST00000532728.6:c.1357+417_1357+418insA
ENST00000635881.1:n.1631_1632insA
ENST00000642271.1:c.1600_1601insA ENSP00000493749.1:p.Ala534AspfsTer?
ENST00000642611.1:n.1554_1555insA
ENST00000642902.1:c.1584_1585insA
ENST00000643260.1:c.1600_1601insA ENSP00000494450.1:p.Ala534AspfsTer?
ENST00000643562.1:c.1603_1604insA ENSP00000496124.1:p.Ala535AspfsTer?
ENST00000644472.1:c.1329+5769_1329+5770insA ENSP00000495378.1:n.1329+5769_1329+5770in...
ENST00000644484.1:c.1600_1601insA ENSP00000493558.1:p.Ala534AspfsTer?
ENST00000644542.1:c.*1305_*1306insA ENSP00000495532.1:n.*1305_*1306insA
ENST00000644649.1:c.773_774insA
ENST00000644675.1:c.1600_1601insA ENSP00000494567.1:p.Ala534AspfsTer?
ENST00000644757.1:c.1603_1604insA ENSP00000495085.1:p.Ala535AspfsTer?
ENST00000644772.1:c.1603_1604insA ENSP00000494321.1:p.Ala535AspfsTer?
ENST00000645076.1:c.885_886insA
ENST00000645744.1:c.1009-10503_1009-10502insA ENSP00000494564.1:n.1009-10503_1009-10502...
ENST00000645760.1:c.1776_1777insA
ENST00000645884.1:c.1600_1601insA ENSP00000495516.1:p.Ala534AspfsTer?
ENST00000646003.1:c.1600_1601insA ENSP00000495259.1:p.Ala534AspfsTer28
ENST00000646207.1:c.1464+431_1464+432insA ENSP00000495025.1:n.1464+431_1464+432insA...
ENST00000646276.1:c.1579_1580insA ENSP00000496070.1:p.Ala527AspfsTer?
ENST00000646592.1:c.854_855insA
ENST00000646902.1:c.1600_1601insA ENSP00000494101.1:p.Ala534AspfsTer?
ENST00000646993.1:c.1603_1604insA ENSP00000493720.1:p.Ala535AspfsTer?
ENST00000647013.1:c.1501_1502insA ENSP00000496741.1:p.Ala501AspfsTer?
ENST00000647015.1:c.1603_1604insA ENSP00000495389.1:p.Ala535AspfsTer?
ENST00000647086.1:c.1600_1601insA ENSP00000493677.1:p.Ala534AspfsTer?
ENST00000647158.1:c.1600_1601insA ENSP00000495744.1:p.Ala534AspfsTer28
ENST00000302539.8:c.1603_1604insA ENSP00000303960.4:p.Ala535AspfsTer?
ENST00000389817.7:c.1603_1604insA ENSP00000374467.3:p.Ala535AspfsTer?
ENST00000526002.1:n.392_393insA
ENST00000527905.5:c.1603_1604insA ENSP00000431653.1:p.Ala535AspfsTer?
ENST00000528202.5:n.45_46insA
ENST00000532728.5:n.1634_1635insA
NM_000352.4:c.1603_1604insA NP_000343.2:p.Ala535AspfsTer?
NM_001287174.1:c.1603_1604insA NP_001274103.1:p.Ala535AspfsTer?
XM_011520331.1:c.1600_1601insA XP_011518633.1:p.Ala534AspfsTer?
XM_011520332.1:c.1603_1604insA XP_011518634.1:p.Ala535AspfsTer?
XM_011520333.1:c.100_101insA XP_011518635.1:p.Ala34AspfsTer?
XM_011520334.1:c.1603_1604insA XP_011518636.1:p.Ala535AspfsTer?
XR_930890.1:n.1666_1667insA
XR_930891.1:n.1666_1667insA
XR_930892.1:n.1666_1667insA
XR_930893.1:n.1666_1667insA
NM_001351295.1:c.1603_1604insA NP_001338224.1:p.Ala535AspfsTer?
NM_001351296.1:c.1600_1601insA NP_001338225.1:p.Ala534AspfsTer?
NM_001351297.1:c.1600_1601insA NP_001338226.1:p.Ala534AspfsTer?
NR_147094.1:n.1669_1670insA
XM_017018197.2:c.1603_1604insA XP_016873686.1:p.Ala535AspfsTer?
XM_017018199.1:c.1600_1601insA XP_016873688.1:p.Ala534AspfsTer?
XM_017018201.2:c.1603_1604insA XP_016873690.1:p.Ala535AspfsTer?
XM_017018202.1:c.100_101insA XP_016873691.1:p.Ala34AspfsTer?
XM_017018204.1:c.-514_-513insA XP_016873693.1:n.-514_-513insA
XM_024448668.1:c.-135_-134insA XP_024304436.1:n.-135_-134insA
XR_001747945.2:n.1675_1676insA
XR_001747946.2:n.1675_1676insA
XR_002957189.1:n.1675_1676insA
NM_000352.6:c.1603_1604insA MANE Select NP_000343.2:p.Ala535AspfsTer?
NM_001287174.2:c.1603_1604insA NP_001274103.1:p.Ala535AspfsTer?
NM_001351295.2:c.1603_1604insA NP_001338224.1:p.Ala535AspfsTer?
NM_001351296.2:c.1600_1601insA NP_001338225.1:p.Ala534AspfsTer?
NM_001351297.2:c.1600_1601insA NP_001338226.1:p.Ala534AspfsTer?
NR_147094.2:n.1669_1670insA
NM_001287174.3:c.1603_1604insA NP_001274103.1:p.Ala535AspfsTer?
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