Canonical Allele Identifier: CA300861461

Gene: ATP8B1

Linked Data

• dbSNP Id: rs1003597858
• gnomAD v2: 18-55362082-C-CA
• gnomAD v3: 18-57694850-C-CA
• gnomAD v4: 18-57694850-C-CA
• MyVariant Identifiers: chr18:g.55362082_55362083insA (hg19) ; chr18:g.57694850_57694851insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.57694854dup , CM000680.2:g.57694854dup	GRCh38
NC_000018.9:g.55362086dup , CM000680.1:g.55362086dup	GRCh37
NC_000018.8:g.53513084dup	NCBI36
NG_007148.2:g.113245dup
NG_007148.3:g.113972dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642462.1:c.941-181dup	ENSP00000494712.1:n.941-181dup
ENST00000648039.1:c.941-181dup	ENSP00000497863.1:n.941-181dup
ENST00000648467.1:c.774-181dup
ENST00000648908.2:c.941-181dup MANE Select	ENSP00000497896.1:n.941-181dup
ENST00000283684.8:c.941-181dup	ENSP00000283684.4:n.941-181dup
ENST00000536015.5:c.941-181dup	ENSP00000445359.1:n.941-181dup
NM_005603.4:c.941-181dup	NP_005594.1:n.941-181dup
XM_006722481.2:c.941-181dup	XP_006722544.1:n.941-181dup
XM_011526020.1:c.941-181dup	XP_011524322.1:n.941-181dup
XM_011526021.1:c.941-181dup	XP_011524323.1:n.941-181dup
XM_011526022.1:c.941-181dup	XP_011524324.1:n.941-181dup
XM_011526023.1:c.827-181dup	XP_011524325.1:n.827-181dup
XM_011526024.1:c.221-181dup	XP_011524326.1:n.221-181dup
XR_935525.1:n.32-1091dup
XR_935526.1:n.32-1091dup
NM_005603.6:c.941-181dup	NP_005594.2:n.941-181dup
XM_006722481.4:c.941-181dup	XP_006722544.1:n.941-181dup
XM_011526023.3:c.827-181dup	XP_011524325.1:n.827-181dup
NM_001374385.1:c.941-181dup MANE Select	NP_001361314.1:n.941-181dup
NM_001374386.1:c.791-181dup	NP_001361315.1:n.791-181dup