Canonical Allele Identifier: CA507695386
Gene: ATP1A3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41984949_41984950insA , CM000681.2:g.41984949_41984950insA GRCh38
NC_000019.9:g.42489101_42489102insA , CM000681.1:g.42489101_42489102insA GRCh37
NC_000019.8:g.47180941_47180942insA NCBI36
NG_008015.1:g.14281_14282insT

Transcript Alleles

HGVS Amino-acid change
ENST00000545399.6:c.1000_1001insT ENSP00000444688.1:p.Asn334IlefsTer?
ENST00000644613.1:c.961_962insT ENSP00000494711.1:p.Asn321IlefsTer?
ENST00000648268.1:c.961_962insT MANE Select ENSP00000498113.1:p.Asn321IlefsTer?
ENST00000302102.9:c.961_962insT ENSP00000302397.5:p.Asn321IlefsTer?
ENST00000441343.5:c.961_962insT ENSP00000411503.1:p.Asn321IlefsTer?
ENST00000485672.2:n.274_275insT
ENST00000543770.5:c.994_995insT ENSP00000437577.1:p.Asn332IlefsTer?
ENST00000545399.5:c.1000_1001insT ENSP00000444688.1:p.Asn334IlefsTer?
ENST00000602133.5:c.871_872insT ENSP00000471581.1:p.Asn291IlefsTer?
NM_001256213.1:c.994_995insT NP_001243142.1:p.Asn332IlefsTer?
NM_001256214.1:c.1000_1001insT NP_001243143.1:p.Asn334IlefsTer?
NM_152296.4:c.961_962insT NP_689509.1:p.Asn321IlefsTer?
XM_011526991.1:c.871_872insT XP_011525293.1:p.Asn291IlefsTer?
NM_152296.5:c.961_962insT MANE Select NP_689509.1:p.Asn321IlefsTer?
NM_001256214.2:c.1000_1001insT NP_001243143.1:p.Asn334IlefsTer?
NM_001256213.2:c.994_995insT NP_001243142.1:p.Asn332IlefsTer?