Canonical Allele Identifier: CA2336728099

Gene: ATP1A3

Linked Data

• dbSNP Id: rs2075275644
• gnomAD v4: 19-41985245-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41985250del , CM000681.2:g.41985250del	GRCh38
NC_000019.9:g.42489402del , CM000681.1:g.42489402del	GRCh37
NC_000019.8:g.47181242del	NCBI36
NG_008015.1:g.13985del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545399.6:c.764-60del	ENSP00000444688.1:n.764-60del
ENST00000644613.1:c.725-60del	ENSP00000494711.1:n.725-60del
ENST00000645448.1:n.1016del
ENST00000648268.1:c.725-60del MANE Select	ENSP00000498113.1:n.725-60del
ENST00000302102.9:c.725-60del	ENSP00000302397.5:n.725-60del
ENST00000441343.5:c.725-60del	ENSP00000411503.1:n.725-60del
ENST00000473086.3:c.635-60del	ENSP00000469129.2:n.635-60del
ENST00000485672.2:n.38-60del
ENST00000543770.5:c.758-60del	ENSP00000437577.1:n.758-60del
ENST00000545399.5:c.764-60del	ENSP00000444688.1:n.764-60del
ENST00000602133.5:c.635-60del	ENSP00000471581.1:n.635-60del
NM_001256213.1:c.758-60del	NP_001243142.1:n.758-60del
NM_001256214.1:c.764-60del	NP_001243143.1:n.764-60del
NM_152296.4:c.725-60del	NP_689509.1:n.725-60del
XM_011526991.1:c.635-60del	XP_011525293.1:n.635-60del
NM_152296.5:c.725-60del MANE Select	NP_689509.1:n.725-60del
NM_001256214.2:c.764-60del	NP_001243143.1:n.764-60del
NM_001256213.2:c.758-60del	NP_001243142.1:n.758-60del