Canonical Allele Identifier: CA2336724751
Gene: ATP1A3 HGNC NCBI

Linked Data

dbSNP Id: rs2075187634

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41977797_41977799del , CM000681.2:g.41977797_41977799del GRCh38
NC_000019.9:g.42481949_42481951del , CM000681.1:g.42481949_42481951del GRCh37
NC_000019.8:g.47173789_47173791del NCBI36
NG_008015.1:g.21432_21434del

Transcript Alleles

HGVS Amino-acid Change
ENST00000545399.6:c.1982+137_1982+139del ENSP00000444688.1:n.1982+137_1982+139del
ENST00000644613.1:c.1943+137_1943+139del ENSP00000494711.1:n.1943+137_1943+139del
ENST00000648268.1:c.1943+137_1943+139del MANE Select ENSP00000498113.1:n.1943+137_1943+139del
ENST00000302102.9:c.1943+137_1943+139del ENSP00000302397.5:n.1943+137_1943+139del
ENST00000441343.5:c.1943+137_1943+139del ENSP00000411503.1:n.1943+137_1943+139del
ENST00000543770.5:c.1976+137_1976+139del ENSP00000437577.1:n.1976+137_1976+139del
ENST00000545399.5:c.1982+137_1982+139del ENSP00000444688.1:n.1982+137_1982+139del
ENST00000602133.5:c.1853+137_1853+139del ENSP00000471581.1:n.1853+137_1853+139del
NM_001256213.1:c.1976+137_1976+139del NP_001243142.1:n.1976+137_1976+139del
NM_001256214.1:c.1982+137_1982+139del NP_001243143.1:n.1982+137_1982+139del
NM_152296.4:c.1943+137_1943+139del NP_689509.1:n.1943+137_1943+139del
XM_011526991.1:c.1853+137_1853+139del XP_011525293.1:n.1853+137_1853+139del
NM_152296.5:c.1943+137_1943+139del MANE Select NP_689509.1:n.1943+137_1943+139del
NM_001256214.2:c.1982+137_1982+139del NP_001243143.1:n.1982+137_1982+139del
NM_001256213.2:c.1976+137_1976+139del NP_001243142.1:n.1976+137_1976+139del