Canonical Allele Identifier: CA2336727877
Gene: ATP1A3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41984755_41984756delinsAG , CM000681.2:g.41984755_41984756delinsAG GRCh38
NC_000019.9:g.42488907_42488908delinsAG , CM000681.1:g.42488907_42488908delinsAG GRCh37
NC_000019.8:g.47180747_47180748delinsAG NCBI36
NG_008015.1:g.14475_14476delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000545399.6:c.1032+162_1032+163delinsCT ENSP00000444688.1:n.1032+162_1032+163delinsCT
ENST00000644613.1:c.993+162_993+163delinsCT ENSP00000494711.1:n.993+162_993+163delinsCT
ENST00000648268.1:c.993+162_993+163delinsCT MANE Select ENSP00000498113.1:n.993+162_993+163delinsCT
ENST00000302102.9:c.993+162_993+163delinsCT ENSP00000302397.5:n.993+162_993+163delinsCT
ENST00000441343.5:c.993+162_993+163delinsCT ENSP00000411503.1:n.993+162_993+163delinsCT
ENST00000485672.2:n.468_469delinsCT
ENST00000543770.5:c.1026+162_1026+163delinsCT ENSP00000437577.1:n.1026+162_1026+163delinsCT
ENST00000545399.5:c.1032+162_1032+163delinsCT ENSP00000444688.1:n.1032+162_1032+163delinsCT
ENST00000602133.5:c.903+162_903+163delinsCT ENSP00000471581.1:n.903+162_903+163delinsCT
NM_001256213.1:c.1026+162_1026+163delinsCT NP_001243142.1:n.1026+162_1026+163delinsCT
NM_001256214.1:c.1032+162_1032+163delinsCT NP_001243143.1:n.1032+162_1032+163delinsCT
NM_152296.4:c.993+162_993+163delinsCT NP_689509.1:n.993+162_993+163delinsCT
XM_011526991.1:c.903+162_903+163delinsCT XP_011525293.1:n.903+162_903+163delinsCT
NM_152296.5:c.993+162_993+163delinsCT MANE Select NP_689509.1:n.993+162_993+163delinsCT
NM_001256214.2:c.1032+162_1032+163delinsCT NP_001243143.1:n.1032+162_1032+163delinsCT
NM_001256213.2:c.1026+162_1026+163delinsCT NP_001243142.1:n.1026+162_1026+163delinsCT