Canonical Allele Identifier: CA919995060

Gene: ATP8B1

Linked Data

• dbSNP Id: rs1599137284

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.57706562del , CM000680.2:g.57706562del	GRCh38
NC_000018.9:g.55373794del , CM000680.1:g.55373794del	GRCh37
NC_000018.8:g.53524792del	NCBI36
NG_007148.2:g.101534del
NG_007148.3:g.102261del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642462.1:c.207del	ENSP00000494712.1:p.Asn69LysfsTer12
ENST00000648039.1:c.207del	ENSP00000497863.1:p.Asn69LysfsTer12
ENST00000648467.1:c.154del
ENST00000648908.2:c.207del MANE Select	ENSP00000497896.1:p.Asn69LysfsTer12
ENST00000283684.8:c.207del	ENSP00000283684.4:p.Asn69LysfsTer12
ENST00000536015.5:c.207del	ENSP00000445359.1:p.Asn69LysfsTer12
ENST00000589147.5:n.101del
ENST00000591728.1:c.182-1894del	ENSP00000467767.1:n.182-1894del
NM_005603.4:c.207del	NP_005594.1:p.Asn69LysfsTer12
XM_006722481.2:c.207del	XP_006722544.1:p.Asn69LysfsTer12
XM_011526020.1:c.207del	XP_011524322.1:p.Asn69LysfsTer12
XM_011526021.1:c.207del	XP_011524323.1:p.Asn69LysfsTer12
XM_011526022.1:c.207del	XP_011524324.1:p.Asn69LysfsTer12
XM_011526023.1:c.207del	XP_011524325.1:p.Asn69LysfsTer12
XR_935525.1:n.123+10526del
XR_935526.1:n.124-101del
NM_005603.6:c.207del	NP_005594.2:p.Asn69LysfsTer12
XM_006722481.4:c.207del	XP_006722544.1:p.Asn69LysfsTer12
XM_011526023.3:c.207del	XP_011524325.1:p.Asn69LysfsTer12
NM_001374385.1:c.207del MANE Select	NP_001361314.1:p.Asn69LysfsTer12
NM_001374386.1:c.130-1894del	NP_001361315.1:n.130-1894del