Canonical Allele Identifier: CA16041438
Gene: ABCC8 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 370948
ClinVar RCV Id: RCV000409392
dbSNP Id: rs1057516890

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17396962_17396963delinsA , CM000673.2:g.17396962_17396963delinsA GRCh38
NC_000011.9:g.17418509_17418510delinsA , CM000673.1:g.17418509_17418510delinsA GRCh37
NC_000011.8:g.17375085_17375086delinsA NCBI36
NG_008867.1:g.84940_84941delinsT

Transcript Alleles

HGVS Amino-acid change
NM_000352.4:c.4072_4073delinsT VV NP_000343.2:p.Lys1358CysfsTer4
NM_001287174.1:c.4075_4076delinsT VV NP_001274103.1:p.Lys1359CysfsTer4
XM_011520331.1:c.4072_4073delinsT XP_011518633.1:p.Lys1358CysfsTer4
XM_011520332.1:c.4075_4076delinsT XP_011518634.1:p.Lys1359CysfsTer4
XM_011520333.1:c.2572_2573delinsT XP_011518635.1:p.Lys858CysfsTer4
XR_930890.1:n.4138_4139delinsT
NM_001351295.1:c.4138_4139delinsT VV NP_001338224.1:p.Lys1380CysfsTer4
NM_001351296.1:c.4072_4073delinsT VV NP_001338225.1:p.Lys1358CysfsTer4
NM_001351297.1:c.4069_4070delinsT VV NP_001338226.1:p.Lys1357CysfsTer4
NR_147094.1:n.4367_4368delinsT
XM_017018197.2:c.4141_4142delinsT XP_016873686.1:p.Lys1381CysfsTer4
XM_017018199.1:c.4138_4139delinsT XP_016873688.1:p.Lys1380CysfsTer4
XM_017018201.2:c.4141_4142delinsT XP_016873690.1:p.Lys1381CysfsTer4
XM_017018202.1:c.2638_2639delinsT XP_016873691.1:p.Lys880CysfsTer4
XM_017018204.1:c.2029_2030delinsT XP_016873693.1:p.Lys677CysfsTer4
XM_024448668.1:c.2440_2441delinsT XP_024304436.1:p.Lys814CysfsTer4
XR_001747945.2:n.4213_4214delinsT
XR_001747946.2:n.4144_4145delinsT
XR_002957189.1:n.4809_4810delinsT
ENST00000302539.8:c.4075_4076delinsT ENSP00000303960.4:p.Lys1359CysfsTer4
ENST00000389817.7:c.4072_4073delinsT ENSP00000374467.3:p.Lys1358CysfsTer4
ENST00000527905.5:c.*1094_*1095delinsT ENSP00000431653.1:p.=
ENST00000528374.1:n.554_555delinsT
ENST00000531137.1:n.637_638delinsT
ENST00000531891.1:n.410_411delinsT
ENST00000532220.1:n.546_547delinsT