Canonical Allele Identifier: CA2548135082
Gene: ATP1A3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41978131_41978132insGG , CM000681.2:g.41978131_41978132insGG GRCh38
NC_000019.9:g.42482283_42482284insGG , CM000681.1:g.42482283_42482284insGG GRCh37
NC_000019.8:g.47174123_47174124insGG NCBI36
NG_008015.1:g.21099_21100insCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000545399.6:c.1845+19_1845+20insCC ENSP00000444688.1:n.1845+19_1845+20insCC
ENST00000644613.1:c.1806+19_1806+20insCC ENSP00000494711.1:n.1806+19_1806+20insCC
ENST00000648268.1:c.1806+19_1806+20insCC MANE Select ENSP00000498113.1:n.1806+19_1806+20insCC
ENST00000302102.9:c.1806+19_1806+20insCC ENSP00000302397.5:n.1806+19_1806+20insCC
ENST00000441343.5:c.1806+19_1806+20insCC ENSP00000411503.1:n.1806+19_1806+20insCC
ENST00000543770.5:c.1839+19_1839+20insCC ENSP00000437577.1:n.1839+19_1839+20insCC
ENST00000545399.5:c.1845+19_1845+20insCC ENSP00000444688.1:n.1845+19_1845+20insCC
ENST00000602133.5:c.1716+19_1716+20insCC ENSP00000471581.1:n.1716+19_1716+20insCC
NM_001256213.1:c.1839+19_1839+20insCC NP_001243142.1:n.1839+19_1839+20insCC
NM_001256214.1:c.1845+19_1845+20insCC NP_001243143.1:n.1845+19_1845+20insCC
NM_152296.4:c.1806+19_1806+20insCC NP_689509.1:n.1806+19_1806+20insCC
XM_011526991.1:c.1716+19_1716+20insCC XP_011525293.1:n.1716+19_1716+20insCC
NM_152296.5:c.1806+19_1806+20insCC MANE Select NP_689509.1:n.1806+19_1806+20insCC
NM_001256214.2:c.1845+19_1845+20insCC NP_001243143.1:n.1845+19_1845+20insCC
NM_001256213.2:c.1839+19_1839+20insCC NP_001243142.1:n.1839+19_1839+20insCC