Canonical Allele Identifier: CA780817700

Gene: ATP8B1

Linked Data

• dbSNP Id: rs1281625818
• MyVariant Identifiers: chr18:g.55362137_55362147del (hg19) ; chr18:g.57694905_57694915del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.57694905_57694915del , CM000680.2:g.57694905_57694915del	GRCh38
NC_000018.9:g.55362137_55362147del , CM000680.1:g.55362137_55362147del	GRCh37
NC_000018.8:g.53513135_53513145del	NCBI36
NG_007148.2:g.113181_113191del
NG_007148.3:g.113908_113918del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642462.1:c.941-245_941-235del	ENSP00000494712.1:n.941-245_941-235del
ENST00000648039.1:c.941-245_941-235del	ENSP00000497863.1:n.941-245_941-235del
ENST00000648467.1:c.774-245_774-235del
ENST00000648908.2:c.941-245_941-235del MANE Select	ENSP00000497896.1:n.941-245_941-235del
ENST00000283684.8:c.941-245_941-235del	ENSP00000283684.4:n.941-245_941-235del
ENST00000536015.5:c.941-245_941-235del	ENSP00000445359.1:n.941-245_941-235del
NM_005603.4:c.941-245_941-235del	NP_005594.1:n.941-245_941-235del
XM_006722481.2:c.941-245_941-235del	XP_006722544.1:n.941-245_941-235del
XM_011526020.1:c.941-245_941-235del	XP_011524322.1:n.941-245_941-235del
XM_011526021.1:c.941-245_941-235del	XP_011524323.1:n.941-245_941-235del
XM_011526022.1:c.941-245_941-235del	XP_011524324.1:n.941-245_941-235del
XM_011526023.1:c.827-245_827-235del	XP_011524325.1:n.827-245_827-235del
XM_011526024.1:c.221-245_221-235del	XP_011524326.1:n.221-245_221-235del
XR_935525.1:n.32-1040_32-1030del
XR_935526.1:n.32-1040_32-1030del
NM_005603.6:c.941-245_941-235del	NP_005594.2:n.941-245_941-235del
XM_006722481.4:c.941-245_941-235del	XP_006722544.1:n.941-245_941-235del
XM_011526023.3:c.827-245_827-235del	XP_011524325.1:n.827-245_827-235del
NM_001374385.1:c.941-245_941-235del MANE Select	NP_001361314.1:n.941-245_941-235del
NM_001374386.1:c.791-245_791-235del	NP_001361315.1:n.791-245_791-235del