Canonical Allele Identifier: CA882392799
Gene: ATP1A3 HGNC NCBI

Linked Data

dbSNP Id: rs1259424220
MyVariant Identifiers: chr19:g.41985179del (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41985179del , CM000681.2:g.41985179del GRCh38
NC_000019.9:g.42489331del , CM000681.1:g.42489331del GRCh37
NC_000019.8:g.47181171del NCBI36
NG_008015.1:g.14052del

Transcript Alleles

HGVS Amino-acid Change
ENST00000545399.6:c.771del ENSP00000444688.1:p.Arg258GlyfsTer?
ENST00000644613.1:c.732del ENSP00000494711.1:p.Arg245GlyfsTer?
ENST00000648268.1:c.732del MANE Select ENSP00000498113.1:p.Arg245GlyfsTer?
ENST00000302102.9:c.732del ENSP00000302397.5:p.Arg245GlyfsTer?
ENST00000441343.5:c.732del ENSP00000411503.1:p.Arg245GlyfsTer?
ENST00000473086.3:c.642del ENSP00000469129.2:p.Arg215GlyfsTer?
ENST00000485672.2:n.45del
ENST00000543770.5:c.765del ENSP00000437577.1:p.Arg256GlyfsTer?
ENST00000545399.5:c.771del ENSP00000444688.1:p.Arg258GlyfsTer?
ENST00000602133.5:c.642del ENSP00000471581.1:p.Arg215GlyfsTer?
NM_001256213.1:c.765del NP_001243142.1:p.Arg256GlyfsTer?
NM_001256214.1:c.771del NP_001243143.1:p.Arg258GlyfsTer?
NM_152296.4:c.732del NP_689509.1:p.Arg245GlyfsTer?
XM_011526991.1:c.642del XP_011525293.1:p.Arg215GlyfsTer?
NM_152296.5:c.732del MANE Select NP_689509.1:p.Arg245GlyfsTer?
NM_001256214.2:c.771del NP_001243143.1:p.Arg258GlyfsTer?
NM_001256213.2:c.765del NP_001243142.1:p.Arg256GlyfsTer?