Canonical Allele Identifier: CA2306116744

Gene: ATP8B1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.57706561_57706562delinsCG , CM000680.2:g.57706561_57706562delinsCG	GRCh38
NC_000018.9:g.55373793_55373794delinsCG , CM000680.1:g.55373793_55373794delinsCG	GRCh37
NC_000018.8:g.53524791_53524792delinsCG	NCBI36
NG_007148.2:g.101534_101535delinsCG
NG_007148.3:g.102261_102262delinsCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642462.1:c.207_208delinsCG	ENSP00000494712.1:p.Asn69=
ENST00000648039.1:c.207_208delinsCG	ENSP00000497863.1:p.Asn69=
ENST00000648467.1:c.154_155delinsCG
ENST00000648908.2:c.207_208delinsCG MANE Select	ENSP00000497896.1:p.Asn69=
ENST00000283684.8:c.207_208delinsCG	ENSP00000283684.4:p.Asn69=
ENST00000536015.5:c.207_208delinsCG	ENSP00000445359.1:p.Asn69=
ENST00000589147.5:n.101_102delinsCG
ENST00000591728.1:c.182-1894_182-1893delinsCG	ENSP00000467767.1:n.182-1894_182-1893delinsCG
NM_005603.4:c.207_208delinsCG	NP_005594.1:p.Asn69=
XM_006722481.2:c.207_208delinsCG	XP_006722544.1:p.Asn69=
XM_011526020.1:c.207_208delinsCG	XP_011524322.1:p.Asn69=
XM_011526021.1:c.207_208delinsCG	XP_011524323.1:p.Asn69=
XM_011526022.1:c.207_208delinsCG	XP_011524324.1:p.Asn69=
XM_011526023.1:c.207_208delinsCG	XP_011524325.1:p.Asn69=
XR_935525.1:n.123+10525_123+10526delinsCG
XR_935526.1:n.124-102_124-101delinsCG
NM_005603.6:c.207_208delinsCG	NP_005594.2:p.Asn69=
XM_006722481.4:c.207_208delinsCG	XP_006722544.1:p.Asn69=
XM_011526023.3:c.207_208delinsCG	XP_011524325.1:p.Asn69=
NM_001374385.1:c.207_208delinsCG MANE Select	NP_001361314.1:p.Asn69=
NM_001374386.1:c.130-1894_130-1893delinsCG	NP_001361315.1:n.130-1894_130-1893delinsCG