Canonical Allele Identifier: CA2336728119
Gene: ATP1A3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41985292_41985298delinsTGCACCC , CM000681.2:g.41985292_41985298delinsTGCACCC GRCh38
NC_000019.9:g.42489444_42489450delinsTGCACCC , CM000681.1:g.42489444_42489450delinsTGCACCC GRCh37
NC_000019.8:g.47181284_47181290delinsTGCACCC NCBI36
NG_008015.1:g.13933_13939delinsGGGTGCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000545399.6:c.763+8_763+14delinsGGGTGCA ENSP00000444688.1:n.763+8_763+14delinsGGGTGCA
ENST00000644613.1:c.724+8_724+14delinsGGGTGCA ENSP00000494711.1:n.724+8_724+14delinsGGGTGCA
ENST00000645448.1:n.964_970delinsGGGTGCA
ENST00000648268.1:c.724+8_724+14delinsGGGTGCA MANE Select ENSP00000498113.1:n.724+8_724+14delinsGGGTGCA
ENST00000302102.9:c.724+8_724+14delinsGGGTGCA ENSP00000302397.5:n.724+8_724+14delinsGGGTGCA
ENST00000441343.5:c.724+8_724+14delinsGGGTGCA ENSP00000411503.1:n.724+8_724+14delinsGGGTGCA
ENST00000473086.3:c.634+8_634+14delinsGGGTGCA ENSP00000469129.2:n.634+8_634+14delinsGGGTGCA
ENST00000485672.2:n.37+8_37+14delinsGGGTGCA
ENST00000543770.5:c.757+8_757+14delinsGGGTGCA ENSP00000437577.1:n.757+8_757+14delinsGGGTGCA
ENST00000545399.5:c.763+8_763+14delinsGGGTGCA ENSP00000444688.1:n.763+8_763+14delinsGGGTGCA
ENST00000602133.5:c.634+8_634+14delinsGGGTGCA ENSP00000471581.1:n.634+8_634+14delinsGGGTGCA
NM_001256213.1:c.757+8_757+14delinsGGGTGCA NP_001243142.1:n.757+8_757+14delinsGGGTGCA
NM_001256214.1:c.763+8_763+14delinsGGGTGCA NP_001243143.1:n.763+8_763+14delinsGGGTGCA
NM_152296.4:c.724+8_724+14delinsGGGTGCA NP_689509.1:n.724+8_724+14delinsGGGTGCA
XM_011526991.1:c.634+8_634+14delinsGGGTGCA XP_011525293.1:n.634+8_634+14delinsGGGTGCA
NM_152296.5:c.724+8_724+14delinsGGGTGCA MANE Select NP_689509.1:n.724+8_724+14delinsGGGTGCA
NM_001256214.2:c.763+8_763+14delinsGGGTGCA NP_001243143.1:n.763+8_763+14delinsGGGTGCA
NM_001256213.2:c.757+8_757+14delinsGGGTGCA NP_001243142.1:n.757+8_757+14delinsGGGTGCA