Canonical Allele Identifier: CA300889368

Gene: ATP8B1

Linked Data

• dbSNP Id: rs34413654
• MyVariant Identifiers: chr18:g.55342412_55342413insC (hg19) ; chr18:g.57675180_57675181insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.57675180_57675181insC , CM000680.2:g.57675180_57675181insC	GRCh38
NC_000018.9:g.55342412_55342413insC , CM000680.1:g.55342412_55342413insC	GRCh37
NC_000018.8:g.53493410_53493411insC	NCBI36
NG_007148.2:g.132915_132916insG
NG_007148.3:g.133642_133643insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642462.1:c.1631-159_1631-158insG	ENSP00000494712.1:n.1631-159_1631-158insG
ENST00000648039.1:c.1631-159_1631-158insG	ENSP00000497863.1:n.1631-159_1631-158insG
ENST00000648467.1:c.1464-127_1464-126insG
ENST00000648908.2:c.1631-159_1631-158insG MANE Select	ENSP00000497896.1:n.1631-159_1631-158insG
ENST00000283684.8:c.1631-159_1631-158insG	ENSP00000283684.4:n.1631-159_1631-158insG
ENST00000536015.5:c.1631-159_1631-158insG	ENSP00000445359.1:n.1631-159_1631-158insG
NM_005603.4:c.1631-159_1631-158insG	NP_005594.1:n.1631-159_1631-158insG
XM_006722481.2:c.1631-159_1631-158insG	XP_006722544.1:n.1631-159_1631-158insG
XM_011526020.1:c.1631-159_1631-158insG	XP_011524322.1:n.1631-159_1631-158insG
XM_011526021.1:c.1631-159_1631-158insG	XP_011524323.1:n.1631-159_1631-158insG
XM_011526022.1:c.1631-159_1631-158insG	XP_011524324.1:n.1631-159_1631-158insG
XM_011526023.1:c.1517-159_1517-158insG	XP_011524325.1:n.1517-159_1517-158insG
XM_011526024.1:c.911-159_911-158insG	XP_011524326.1:n.911-159_911-158insG
NM_005603.6:c.1631-159_1631-158insG	NP_005594.2:n.1631-159_1631-158insG
XM_006722481.4:c.1631-159_1631-158insG	XP_006722544.1:n.1631-159_1631-158insG
XM_011526023.3:c.1517-159_1517-158insG	XP_011524325.1:n.1517-159_1517-158insG
NM_001374385.1:c.1631-159_1631-158insG MANE Select	NP_001361314.1:n.1631-159_1631-158insG
NM_001374386.1:c.1481-159_1481-158insG	NP_001361315.1:n.1481-159_1481-158insG