Canonical Allele Identifier: CA2695227718

Gene: ATP8B1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.57706488_57706490del , CM000680.2:g.57706488_57706490del	GRCh38
NC_000018.9:g.55373720_55373722del , CM000680.1:g.55373720_55373722del	GRCh37
NC_000018.8:g.53524718_53524720del	NCBI36
NG_007148.2:g.101607_101609del
NG_007148.3:g.102334_102336del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642462.1:c.279+1_279+3del
ENST00000648039.1:c.279+1_279+3del
ENST00000648467.1:c.226+1_226+3del
ENST00000648908.2:c.279+1_279+3del
ENST00000283684.8:c.279+1_279+3del
ENST00000536015.5:c.279+1_279+3del
ENST00000589147.5:n.173+1_173+3del
ENST00000591728.1:c.182-1821_182-1819del	ENSP00000467767.1:n.182-1821_182-1819del
NM_005603.4:c.279+1_279+3del
XM_006722481.2:c.279+1_279+3del
XM_011526020.1:c.279+1_279+3del
XM_011526021.1:c.279+1_279+3del
XM_011526022.1:c.279+1_279+3del
XM_011526023.1:c.279+1_279+3del
XR_935525.1:n.123+10452_123+10454del
XR_935526.1:n.124-175_124-173del
NM_005603.6:c.279+1_279+3del
XM_006722481.4:c.279+1_279+3del
XM_011526023.3:c.279+1_279+3del
NM_001374385.1:c.279+1_279+3del
NM_001374386.1:c.130-1821_130-1819del	NP_001361315.1:n.130-1821_130-1819del