Canonical Allele Identifier: CA2840693853
Gene: ATP1A3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41970251dup , CM000681.2:g.41970251dup GRCh38
NC_000019.9:g.42474403dup , CM000681.1:g.42474403dup GRCh37
NC_000019.8:g.47166243dup NCBI36
NG_008015.1:g.28982dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000545399.6:c.2517dup ENSP00000444688.1:p.Arg840GlnfsTer11
ENST00000644613.1:c.2478dup ENSP00000494711.1:p.Arg827GlnfsTer11
ENST00000648268.1:c.2478dup MANE Select ENSP00000498113.1:p.Arg827GlnfsTer11
ENST00000302102.9:c.2478dup ENSP00000302397.5:p.Arg827GlnfsTer11
ENST00000441343.5:c.2478dup ENSP00000411503.1:p.Arg827GlnfsTer11
ENST00000543770.5:c.2511dup ENSP00000437577.1:p.Arg838GlnfsTer11
ENST00000545399.5:c.2517dup ENSP00000444688.1:p.Arg840GlnfsTer11
ENST00000602133.5:c.2388dup ENSP00000471581.1:p.Arg797GlnfsTer11
NM_001256213.1:c.2511dup NP_001243142.1:p.Arg838GlnfsTer11
NM_001256214.1:c.2517dup NP_001243143.1:p.Arg840GlnfsTer11
NM_152296.4:c.2478dup NP_689509.1:p.Arg827GlnfsTer11
XM_011526991.1:c.2388dup XP_011525293.1:p.Arg797GlnfsTer11
NM_152296.5:c.2478dup MANE Select NP_689509.1:p.Arg827GlnfsTer11
NM_001256214.2:c.2517dup NP_001243143.1:p.Arg840GlnfsTer11
NM_001256213.2:c.2511dup NP_001243142.1:p.Arg838GlnfsTer11