Canonical Allele Identifier: CA2499225227

Gene: ATP8B1

Linked Data

• ClinVar Variation Id: 1195886
• ClinVar RCV Id: RCV001559144

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.57694831_57697061dup , CM000680.2:g.57694831_57697061dup	GRCh38
NC_000018.9:g.55362063_55364293dup , CM000680.1:g.55362063_55364293dup	GRCh37
NC_000018.8:g.53513061_53515291dup	NCBI36
NG_007148.2:g.111042_113272dup
NG_007148.3:g.111769_113999dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642462.1:c.698+564_941-154dup
ENST00000648039.1:c.698+564_941-154dup
ENST00000648467.1:c.531+564_774-154dup
ENST00000648908.2:c.698+564_941-154dup
ENST00000283684.8:c.698+564_941-154dup
ENST00000536015.5:c.698+564_941-154dup
NM_005603.4:c.698+564_941-154dup
XM_006722481.2:c.698+564_941-154dup
XM_011526020.1:c.698+564_941-154dup
XM_011526021.1:c.698+564_941-154dup
XM_011526022.1:c.698+564_941-154dup
XM_011526023.1:c.584+564_827-154dup
XM_011526024.1:c.-23+564_221-154dup
XR_935525.1:n.32-1114_123+1025dup
XR_935526.1:n.32-1114_123+1025dup
NM_005603.6:c.698+564_941-154dup
XM_006722481.4:c.698+564_941-154dup
XM_011526023.3:c.584+564_827-154dup
NM_001374385.1:c.698+564_941-154dup
NM_001374386.1:c.548+564_791-154dup