Canonical Allele Identifier: CA2306111452

Gene: ATP8B1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.57694171_57694172delinsAT , CM000680.2:g.57694171_57694172delinsAT	GRCh38
NC_000018.9:g.55361403_55361404delinsAT , CM000680.1:g.55361403_55361404delinsAT	GRCh37
NC_000018.8:g.53512401_53512402delinsAT	NCBI36
NG_007148.2:g.113924_113925delinsAT
NG_007148.3:g.114651_114652delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642462.1:c.1029+410_1029+411delinsAT	ENSP00000494712.1:n.1029+410_1029+411delinsAT
ENST00000648039.1:c.1029+410_1029+411delinsAT	ENSP00000497863.1:n.1029+410_1029+411delinsAT
ENST00000648467.1:c.862+410_862+411delinsAT
ENST00000648908.2:c.1029+410_1029+411delinsAT MANE Select	ENSP00000497896.1:n.1029+410_1029+411delinsAT
ENST00000283684.8:c.1029+410_1029+411delinsAT	ENSP00000283684.4:n.1029+410_1029+411delinsAT
ENST00000536015.5:c.1029+410_1029+411delinsAT	ENSP00000445359.1:n.1029+410_1029+411delinsAT
NM_005603.4:c.1029+410_1029+411delinsAT	NP_005594.1:n.1029+410_1029+411delinsAT
XM_006722481.2:c.1029+410_1029+411delinsAT	XP_006722544.1:n.1029+410_1029+411delinsAT
XM_011526020.1:c.1029+410_1029+411delinsAT	XP_011524322.1:n.1029+410_1029+411delinsAT
XM_011526021.1:c.1029+410_1029+411delinsAT	XP_011524323.1:n.1029+410_1029+411delinsAT
XM_011526022.1:c.1029+410_1029+411delinsAT	XP_011524324.1:n.1029+410_1029+411delinsAT
XM_011526023.1:c.915+410_915+411delinsAT	XP_011524325.1:n.915+410_915+411delinsAT
XM_011526024.1:c.309+410_309+411delinsAT	XP_011524326.1:n.309+410_309+411delinsAT
XR_935525.1:n.32-1774_32-1773delinsAT
XR_935526.1:n.32-1774_32-1773delinsAT
NM_005603.6:c.1029+410_1029+411delinsAT	NP_005594.2:n.1029+410_1029+411delinsAT
XM_006722481.4:c.1029+410_1029+411delinsAT	XP_006722544.1:n.1029+410_1029+411delinsAT
XM_011526023.3:c.915+410_915+411delinsAT	XP_011524325.1:n.915+410_915+411delinsAT
NM_001374385.1:c.1029+410_1029+411delinsAT MANE Select	NP_001361314.1:n.1029+410_1029+411delinsAT
NM_001374386.1:c.879+410_879+411delinsAT	NP_001361315.1:n.879+410_879+411delinsAT