Canonical Allele Identifier: CA2641954238

Gene: ATP8B1

Linked Data

• gnomAD v4: 18-57674724-GGAGC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.57674725_57674728del , CM000680.2:g.57674725_57674728del	GRCh38
NC_000018.9:g.55341957_55341960del , CM000680.1:g.55341957_55341960del	GRCh37
NC_000018.8:g.53492955_53492958del	NCBI36
NG_007148.2:g.133368_133371del
NG_007148.3:g.134095_134098del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642462.1:c.1819+106_1819+109del	ENSP00000494712.1:n.1819+106_1819+109del
ENST00000648039.1:c.1819+106_1819+109del	ENSP00000497863.1:n.1819+106_1819+109del
ENST00000648467.1:c.1684+106_1684+109del
ENST00000648908.2:c.1819+106_1819+109del MANE Select	ENSP00000497896.1:n.1819+106_1819+109del
ENST00000283684.8:c.1819+106_1819+109del	ENSP00000283684.4:n.1819+106_1819+109del
ENST00000536015.5:c.1819+106_1819+109del	ENSP00000445359.1:n.1819+106_1819+109del
NM_005603.4:c.1819+106_1819+109del	NP_005594.1:n.1819+106_1819+109del
XM_006722481.2:c.1819+106_1819+109del	XP_006722544.1:n.1819+106_1819+109del
XM_011526020.1:c.1819+106_1819+109del	XP_011524322.1:n.1819+106_1819+109del
XM_011526021.1:c.1819+106_1819+109del	XP_011524323.1:n.1819+106_1819+109del
XM_011526022.1:c.1819+106_1819+109del	XP_011524324.1:n.1819+106_1819+109del
XM_011526023.1:c.1705+106_1705+109del	XP_011524325.1:n.1705+106_1705+109del
XM_011526024.1:c.1099+106_1099+109del	XP_011524326.1:n.1099+106_1099+109del
NM_005603.6:c.1819+106_1819+109del	NP_005594.2:n.1819+106_1819+109del
XM_006722481.4:c.1819+106_1819+109del	XP_006722544.1:n.1819+106_1819+109del
XM_011526023.3:c.1705+106_1705+109del	XP_011524325.1:n.1705+106_1705+109del
NM_001374385.1:c.1819+106_1819+109del MANE Select	NP_001361314.1:n.1819+106_1819+109del
NM_001374386.1:c.1669+106_1669+109del	NP_001361315.1:n.1669+106_1669+109del