Canonical Allele Identifier: CA300861438
Gene: ATP8B1 HGNC NCBI

Linked Data

dbSNP Id: rs1054068612

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.57694788del , CM000680.2:g.57694788del GRCh38
NC_000018.9:g.55362020del , CM000680.1:g.55362020del GRCh37
NC_000018.8:g.53513018del NCBI36
NG_007148.2:g.113311del
NG_007148.3:g.114038del

Transcript Alleles

HGVS Amino-acid Change
ENST00000642462.1:c.941-115del ENSP00000494712.1:n.941-115del
ENST00000648039.1:c.941-115del ENSP00000497863.1:n.941-115del
ENST00000648467.1:c.774-115del
ENST00000648908.2:c.941-115del MANE Select ENSP00000497896.1:n.941-115del
ENST00000283684.8:c.941-115del ENSP00000283684.4:n.941-115del
ENST00000536015.5:c.941-115del ENSP00000445359.1:n.941-115del
NM_005603.4:c.941-115del NP_005594.1:n.941-115del
XM_006722481.2:c.941-115del XP_006722544.1:n.941-115del
XM_011526020.1:c.941-115del XP_011524322.1:n.941-115del
XM_011526021.1:c.941-115del XP_011524323.1:n.941-115del
XM_011526022.1:c.941-115del XP_011524324.1:n.941-115del
XM_011526023.1:c.827-115del XP_011524325.1:n.827-115del
XM_011526024.1:c.221-115del XP_011524326.1:n.221-115del
XR_935525.1:n.32-1157del
XR_935526.1:n.32-1157del
NM_005603.6:c.941-115del NP_005594.2:n.941-115del
XM_006722481.4:c.941-115del XP_006722544.1:n.941-115del
XM_011526023.3:c.827-115del XP_011524325.1:n.827-115del
NM_001374385.1:c.941-115del MANE Select NP_001361314.1:n.941-115del
NM_001374386.1:c.791-115del NP_001361315.1:n.791-115del