Canonical Allele Identifier: CA5903406

Gene: ABCC8

Linked Data

• dbSNP Id: rs764613146
• ExAC: 11:17450155 T / TG
• gnomAD v2: 11-17450155-T-TG
• gnomAD v4: 11-17428608-T-TG
• MyVariant Identifiers: chr11:g.17450155_17450156insG (hg19) ; chr11:g.17428608_17428609insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17428614dup , CM000673.2:g.17428614dup	GRCh38
NC_000011.9:g.17450161dup , CM000673.1:g.17450161dup	GRCh37
NC_000011.8:g.17406737dup	NCBI36
NG_008867.1:g.53294dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000524561.2:n.1548dup
ENST00000642611.2:n.1945dup
ENST00000682051.1:n.1892dup
ENST00000682110.1:n.1945dup
ENST00000682140.1:c.1876dup	ENSP00000507829.1:p.His626ProfsTer2
ENST00000682185.1:n.3184dup
ENST00000682204.1:c.*17dup	ENSP00000507094.1:n.*17dup
ENST00000682215.1:n.1945dup
ENST00000682288.1:c.*307dup	ENSP00000507506.1:n.*307dup
ENST00000682442.1:n.2066dup
ENST00000682528.1:n.1945dup
ENST00000682673.1:n.1892dup
ENST00000682805.1:n.1945dup
ENST00000682965.1:c.1876dup	ENSP00000508229.1:p.His626ProfsTer2
ENST00000683093.1:n.2047dup
ENST00000683136.1:c.1876dup	ENSP00000507768.1:p.His626ProfsTer2
ENST00000683153.1:n.1945dup
ENST00000683253.1:n.2961dup
ENST00000683365.1:n.2047dup
ENST00000683377.1:n.1945dup
ENST00000683456.1:c.1876dup	ENSP00000508318.1:p.His626ProfsTer2
ENST00000683522.1:n.1945dup
ENST00000683562.1:c.*48dup	ENSP00000508265.1:n.*48dup
ENST00000683693.1:n.1945dup
ENST00000683725.1:c.1879dup	ENSP00000507496.1:p.His627ProfsTer2
ENST00000684010.1:n.1945dup
ENST00000684157.1:n.1945dup
ENST00000684253.1:n.1851dup
ENST00000684288.1:c.*48dup	ENSP00000507143.1:n.*48dup
ENST00000684313.1:n.1724-11647dup
ENST00000684332.1:n.2018dup
ENST00000684371.1:n.1892dup
ENST00000684404.1:n.1945dup
ENST00000684442.1:n.1945dup
ENST00000684555.1:c.*88dup	ENSP00000507705.1:n.*88dup
ENST00000684571.1:c.1720dup	ENSP00000506935.1:p.His574ProfsTer2
ENST00000684593.1:c.*1584dup	ENSP00000507005.1:n.*1584dup
ENST00000684711.1:c.*275dup	ENSP00000506841.1:n.*275dup
ENST00000302539.9:c.1879dup	ENSP00000303960.4:p.His627ProfsTer2
ENST00000389817.8:c.1879dup MANE Select	ENSP00000374467.4:p.His627ProfsTer2
ENST00000532728.6:c.1460dup
ENST00000642271.1:c.1876dup	ENSP00000493749.1:p.His626ProfsTer2
ENST00000642611.1:n.1830dup
ENST00000642902.1:c.1714dup
ENST00000643260.1:c.1876dup	ENSP00000494450.1:p.His626ProfsTer2
ENST00000643562.1:c.1879dup	ENSP00000496124.1:p.His627ProfsTer2
ENST00000644447.1:c.232dup	ENSP00000496282.1:p.His78ProfsTer2
ENST00000644472.1:c.*240dup	ENSP00000495378.1:n.*240dup
ENST00000644484.1:c.*88dup	ENSP00000493558.1:n.*88dup
ENST00000644542.1:c.*1581dup	ENSP00000495532.1:n.*1581dup
ENST00000644649.1:c.1049dup
ENST00000644675.1:c.*48dup	ENSP00000494567.1:n.*48dup
ENST00000644757.1:c.*181dup	ENSP00000495085.1:n.*181dup
ENST00000644772.1:c.1879dup	ENSP00000494321.1:p.His627ProfsTer2
ENST00000645076.1:c.1131dup
ENST00000645744.1:c.*240dup	ENSP00000494564.1:n.*240dup
ENST00000645760.1:c.2154dup
ENST00000645884.1:c.1876dup	ENSP00000495516.1:p.His626ProfsTer2
ENST00000646003.1:c.*17dup	ENSP00000495259.1:n.*17dup
ENST00000646207.1:c.*240dup	ENSP00000495025.1:n.*240dup
ENST00000646276.1:c.*149dup	ENSP00000496070.1:n.*149dup
ENST00000646592.1:c.943dup
ENST00000646902.1:c.1876dup	ENSP00000494101.1:p.His626ProfsTer2
ENST00000646993.1:c.*275dup	ENSP00000493720.1:n.*275dup
ENST00000647013.1:c.1882dup	ENSP00000496741.1:n.1882dup
ENST00000647015.1:c.1672-204dup	ENSP00000495389.1:n.1672-204dup
ENST00000647086.1:c.*1606dup	ENSP00000493677.1:n.*1606dup
ENST00000647158.1:c.*17dup	ENSP00000495744.1:n.*17dup
ENST00000302539.8:c.1879dup	ENSP00000303960.4:p.His627ProfsTer2
ENST00000389817.7:c.1879dup	ENSP00000374467.3:p.His627ProfsTer2
ENST00000527905.5:c.1849dup	ENSP00000431653.1:p.His617ProfsTer2
NM_000352.4:c.1879dup	NP_000343.2:p.His627ProfsTer2
NM_001287174.1:c.1879dup	NP_001274103.1:p.His627ProfsTer2
XM_011520331.1:c.1876dup	XP_011518633.1:p.His626ProfsTer2
XM_011520332.1:c.1879dup	XP_011518634.1:p.His627ProfsTer2
XM_011520333.1:c.376dup	XP_011518635.1:p.His126ProfsTer2
XM_011520334.1:c.1879dup	XP_011518636.1:p.His627ProfsTer2
XR_930890.1:n.1942dup
XR_930891.1:n.1942dup
XR_930892.1:n.1942dup
XR_930893.1:n.1942dup
NM_001351295.1:c.1879dup	NP_001338224.1:p.His627ProfsTer2
NM_001351296.1:c.1876dup	NP_001338225.1:p.His626ProfsTer2
NM_001351297.1:c.1876dup	NP_001338226.1:p.His626ProfsTer2
NR_147094.1:n.1945dup
XM_017018197.2:c.1879dup	XP_016873686.1:p.His627ProfsTer2
XM_017018199.1:c.1876dup	XP_016873688.1:p.His626ProfsTer2
XM_017018201.2:c.1879dup	XP_016873690.1:p.His627ProfsTer2
XM_017018202.1:c.376dup	XP_016873691.1:p.His126ProfsTer2
XM_017018204.1:c.-165dup	XP_016873693.1:n.-165dup
XM_024448668.1:c.244dup	XP_024304436.1:p.His82ProfsTer2
XR_001747945.2:n.1951dup
XR_001747946.2:n.1951dup
XR_002957189.1:n.1951dup
NM_000352.6:c.1879dup MANE Select	NP_000343.2:p.His627ProfsTer2
NM_001287174.2:c.1879dup	NP_001274103.1:p.His627ProfsTer2
NM_001351295.2:c.1879dup	NP_001338224.1:p.His627ProfsTer2
NM_001351296.2:c.1876dup	NP_001338225.1:p.His626ProfsTer2
NM_001351297.2:c.1876dup	NP_001338226.1:p.His626ProfsTer2
NR_147094.2:n.1945dup
NM_001287174.3:c.1879dup	NP_001274103.1:p.His627ProfsTer2