Canonical Allele Identifier: CA2336727896
Gene: ATP1A3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41984785_41984786delinsAG , CM000681.2:g.41984785_41984786delinsAG GRCh38
NC_000019.9:g.42488937_42488938delinsAG , CM000681.1:g.42488937_42488938delinsAG GRCh37
NC_000019.8:g.47180777_47180778delinsAG NCBI36
NG_008015.1:g.14445_14446delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000545399.6:c.1032+132_1032+133delinsCT ENSP00000444688.1:n.1032+132_1032+133delinsCT
ENST00000644613.1:c.993+132_993+133delinsCT ENSP00000494711.1:n.993+132_993+133delinsCT
ENST00000648268.1:c.993+132_993+133delinsCT MANE Select ENSP00000498113.1:n.993+132_993+133delinsCT
ENST00000302102.9:c.993+132_993+133delinsCT ENSP00000302397.5:n.993+132_993+133delinsCT
ENST00000441343.5:c.993+132_993+133delinsCT ENSP00000411503.1:n.993+132_993+133delinsCT
ENST00000485672.2:n.438_439delinsCT
ENST00000543770.5:c.1026+132_1026+133delinsCT ENSP00000437577.1:n.1026+132_1026+133delinsCT
ENST00000545399.5:c.1032+132_1032+133delinsCT ENSP00000444688.1:n.1032+132_1032+133delinsCT
ENST00000602133.5:c.903+132_903+133delinsCT ENSP00000471581.1:n.903+132_903+133delinsCT
NM_001256213.1:c.1026+132_1026+133delinsCT NP_001243142.1:n.1026+132_1026+133delinsCT
NM_001256214.1:c.1032+132_1032+133delinsCT NP_001243143.1:n.1032+132_1032+133delinsCT
NM_152296.4:c.993+132_993+133delinsCT NP_689509.1:n.993+132_993+133delinsCT
XM_011526991.1:c.903+132_903+133delinsCT XP_011525293.1:n.903+132_903+133delinsCT
NM_152296.5:c.993+132_993+133delinsCT MANE Select NP_689509.1:n.993+132_993+133delinsCT
NM_001256214.2:c.1032+132_1032+133delinsCT NP_001243143.1:n.1032+132_1032+133delinsCT
NM_001256213.2:c.1026+132_1026+133delinsCT NP_001243142.1:n.1026+132_1026+133delinsCT