Canonical Allele Identifier: CA2814441697
Gene: ATP1A3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41970654_41970656del , CM000681.2:g.41970654_41970656del GRCh38
NC_000019.9:g.42474806_42474808del , CM000681.1:g.42474806_42474808del GRCh37
NC_000019.8:g.47166646_47166648del NCBI36
NG_008015.1:g.28575_28577del

Transcript Alleles

HGVS Amino-acid Change
ENST00000545399.6:c.2303-114_2303-112del ENSP00000444688.1:n.2303-114_2303-112del
ENST00000644613.1:c.2264-114_2264-112del ENSP00000494711.1:n.2264-114_2264-112del
ENST00000648268.1:c.2264-114_2264-112del MANE Select ENSP00000498113.1:n.2264-114_2264-112del
ENST00000302102.9:c.2264-114_2264-112del ENSP00000302397.5:n.2264-114_2264-112del
ENST00000441343.5:c.2264-114_2264-112del ENSP00000411503.1:n.2264-114_2264-112del
ENST00000543770.5:c.2297-114_2297-112del ENSP00000437577.1:n.2297-114_2297-112del
ENST00000545399.5:c.2303-114_2303-112del ENSP00000444688.1:n.2303-114_2303-112del
ENST00000602133.5:c.2174-114_2174-112del ENSP00000471581.1:n.2174-114_2174-112del
NM_001256213.1:c.2297-114_2297-112del NP_001243142.1:n.2297-114_2297-112del
NM_001256214.1:c.2303-114_2303-112del NP_001243143.1:n.2303-114_2303-112del
NM_152296.4:c.2264-114_2264-112del NP_689509.1:n.2264-114_2264-112del
XM_011526991.1:c.2174-114_2174-112del XP_011525293.1:n.2174-114_2174-112del
NM_152296.5:c.2264-114_2264-112del MANE Select NP_689509.1:n.2264-114_2264-112del
NM_001256214.2:c.2303-114_2303-112del NP_001243143.1:n.2303-114_2303-112del
NM_001256213.2:c.2297-114_2297-112del NP_001243142.1:n.2297-114_2297-112del