Canonical Allele Identifier: CA2641954486

Gene: ATP8B1

Linked Data

• gnomAD v4: 18-57674907-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.57674908del , CM000680.2:g.57674908del	GRCh38
NC_000018.9:g.55342140del , CM000680.1:g.55342140del	GRCh37
NC_000018.8:g.53493138del	NCBI36
NG_007148.2:g.133188del
NG_007148.3:g.133915del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642462.1:c.1745del	ENSP00000494712.1:p.Leu582ArgfsTer26
ENST00000648039.1:c.1745del	ENSP00000497863.1:p.Leu582ArgfsTer26
ENST00000648467.1:c.1610del
ENST00000648908.2:c.1745del MANE Select	ENSP00000497896.1:p.Leu582ArgfsTer26
ENST00000283684.8:c.1745del	ENSP00000283684.4:p.Leu582ArgfsTer26
ENST00000536015.5:c.1745del	ENSP00000445359.1:p.Leu582ArgfsTer26
NM_005603.4:c.1745del	NP_005594.1:p.Leu582ArgfsTer26
XM_006722481.2:c.1745del	XP_006722544.1:p.Leu582ArgfsTer26
XM_011526020.1:c.1745del	XP_011524322.1:p.Leu582ArgfsTer26
XM_011526021.1:c.1745del	XP_011524323.1:p.Leu582ArgfsTer26
XM_011526022.1:c.1745del	XP_011524324.1:p.Leu582ArgfsTer26
XM_011526023.1:c.1631del	XP_011524325.1:p.Leu544ArgfsTer26
XM_011526024.1:c.1025del	XP_011524326.1:p.Leu342ArgfsTer26
NM_005603.6:c.1745del	NP_005594.2:p.Leu582ArgfsTer26
XM_006722481.4:c.1745del	XP_006722544.1:p.Leu582ArgfsTer26
XM_011526023.3:c.1631del	XP_011524325.1:p.Leu544ArgfsTer26
NM_001374385.1:c.1745del MANE Select	NP_001361314.1:p.Leu582ArgfsTer26
NM_001374386.1:c.1595del	NP_001361315.1:p.Leu532ArgfsTer26