Canonical Allele Identifier: CA2576663500

Gene: ATP8B1

Linked Data

• gnomAD v4: 18-57674761-ATGCCACTCAATACAATGGGCAC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.57674762_57674783del , CM000680.2:g.57674762_57674783del	GRCh38
NC_000018.9:g.55341994_55342015del , CM000680.1:g.55341994_55342015del	GRCh37
NC_000018.8:g.53492992_53493013del	NCBI36
NG_007148.2:g.133313_133334del
NG_007148.3:g.134040_134061del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642462.1:c.1819+51_1819+72del	ENSP00000494712.1:n.1819+51_1819+72del
ENST00000648039.1:c.1819+51_1819+72del	ENSP00000497863.1:n.1819+51_1819+72del
ENST00000648467.1:c.1684+51_1684+72del
ENST00000648908.2:c.1819+51_1819+72del MANE Select	ENSP00000497896.1:n.1819+51_1819+72del
ENST00000283684.8:c.1819+51_1819+72del	ENSP00000283684.4:n.1819+51_1819+72del
ENST00000536015.5:c.1819+51_1819+72del	ENSP00000445359.1:n.1819+51_1819+72del
NM_005603.4:c.1819+51_1819+72del	NP_005594.1:n.1819+51_1819+72del
XM_006722481.2:c.1819+51_1819+72del	XP_006722544.1:n.1819+51_1819+72del
XM_011526020.1:c.1819+51_1819+72del	XP_011524322.1:n.1819+51_1819+72del
XM_011526021.1:c.1819+51_1819+72del	XP_011524323.1:n.1819+51_1819+72del
XM_011526022.1:c.1819+51_1819+72del	XP_011524324.1:n.1819+51_1819+72del
XM_011526023.1:c.1705+51_1705+72del	XP_011524325.1:n.1705+51_1705+72del
XM_011526024.1:c.1099+51_1099+72del	XP_011524326.1:n.1099+51_1099+72del
NM_005603.6:c.1819+51_1819+72del	NP_005594.2:n.1819+51_1819+72del
XM_006722481.4:c.1819+51_1819+72del	XP_006722544.1:n.1819+51_1819+72del
XM_011526023.3:c.1705+51_1705+72del	XP_011524325.1:n.1705+51_1705+72del
NM_001374385.1:c.1819+51_1819+72del MANE Select	NP_001361314.1:n.1819+51_1819+72del
NM_001374386.1:c.1669+51_1669+72del	NP_001361315.1:n.1669+51_1669+72del