Canonical Allele Identifier: CA2840784526
Gene: ATP1A3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41978212dup , CM000681.2:g.41978212dup GRCh38
NC_000019.9:g.42482364dup , CM000681.1:g.42482364dup GRCh37
NC_000019.8:g.47174204dup NCBI36
NG_008015.1:g.21019dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000545399.6:c.1784dup ENSP00000444688.1:p.Asp596ArgfsTer9
ENST00000644613.1:c.1745dup ENSP00000494711.1:p.Asp583ArgfsTer9
ENST00000648268.1:c.1745dup MANE Select ENSP00000498113.1:p.Asp583ArgfsTer9
ENST00000302102.9:c.1745dup ENSP00000302397.5:p.Asp583ArgfsTer9
ENST00000441343.5:c.1745dup ENSP00000411503.1:p.Asp583ArgfsTer9
ENST00000543770.5:c.1778dup ENSP00000437577.1:p.Asp594ArgfsTer9
ENST00000545399.5:c.1784dup ENSP00000444688.1:p.Asp596ArgfsTer9
ENST00000602133.5:c.1655dup ENSP00000471581.1:p.Asp553ArgfsTer9
NM_001256213.1:c.1778dup NP_001243142.1:p.Asp594ArgfsTer9
NM_001256214.1:c.1784dup NP_001243143.1:p.Asp596ArgfsTer9
NM_152296.4:c.1745dup NP_689509.1:p.Asp583ArgfsTer9
XM_011526991.1:c.1655dup XP_011525293.1:p.Asp553ArgfsTer9
NM_152296.5:c.1745dup MANE Select NP_689509.1:p.Asp583ArgfsTer9
NM_001256214.2:c.1784dup NP_001243143.1:p.Asp596ArgfsTer9
NM_001256213.2:c.1778dup NP_001243142.1:p.Asp594ArgfsTer9