Canonical Allele Identifier: CA2336726602
Gene: ATP1A3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41982046_41982052delinsCCAGGTT , CM000681.2:g.41982046_41982052delinsCCAGGTT GRCh38
NC_000019.9:g.42486198_42486204delinsCCAGGTT , CM000681.1:g.42486198_42486204delinsCCAGGTT GRCh37
NC_000019.8:g.47178038_47178044delinsCCAGGTT NCBI36
NG_008015.1:g.17179_17185delinsAACCTGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000545399.6:c.1087_1093delinsAACCTGG ENSP00000444688.1:p.Asn363=
ENST00000644613.1:c.1048_1054delinsAACCTGG ENSP00000494711.1:p.Asn350=
ENST00000648268.1:c.1048_1054delinsAACCTGG MANE Select ENSP00000498113.1:p.Asn350=
ENST00000302102.9:c.1048_1054delinsAACCTGG ENSP00000302397.5:p.Asn350=
ENST00000441343.5:c.1048_1054delinsAACCTGG ENSP00000411503.1:p.Asn350=
ENST00000543770.5:c.1081_1087delinsAACCTGG ENSP00000437577.1:p.Asn361=
ENST00000545399.5:c.1087_1093delinsAACCTGG ENSP00000444688.1:p.Asn363=
ENST00000602133.5:c.958_964delinsAACCTGG ENSP00000471581.1:p.Asn320=
NM_001256213.1:c.1081_1087delinsAACCTGG NP_001243142.1:p.Asn361=
NM_001256214.1:c.1087_1093delinsAACCTGG NP_001243143.1:p.Asn363=
NM_152296.4:c.1048_1054delinsAACCTGG NP_689509.1:p.Asn350=
XM_011526991.1:c.958_964delinsAACCTGG XP_011525293.1:p.Asn320=
NM_152296.5:c.1048_1054delinsAACCTGG MANE Select NP_689509.1:p.Asn350=
NM_001256214.2:c.1087_1093delinsAACCTGG NP_001243143.1:p.Asn363=
NM_001256213.2:c.1081_1087delinsAACCTGG NP_001243142.1:p.Asn361=