Canonical Allele Identifier: CA645620113

Gene: ATP1A3

Linked Data

• COSMIC: COSM997180

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41984950dup , CM000681.2:g.41984950dup	GRCh38
NC_000019.9:g.42489102dup , CM000681.1:g.42489102dup	GRCh37
NC_000019.8:g.47180942dup	NCBI36
NG_008015.1:g.14282dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000545399.6:c.1001dup	ENSP00000444688.1:p.Asn334LysfsTer?
ENST00000644613.1:c.962dup	ENSP00000494711.1:p.Asn321LysfsTer?
ENST00000648268.1:c.962dup MANE Select	ENSP00000498113.1:p.Asn321LysfsTer?
ENST00000302102.9:c.962dup	ENSP00000302397.5:p.Asn321LysfsTer?
ENST00000441343.5:c.962dup	ENSP00000411503.1:p.Asn321LysfsTer?
ENST00000485672.2:n.275dup
ENST00000543770.5:c.995dup	ENSP00000437577.1:p.Asn332LysfsTer?
ENST00000545399.5:c.1001dup	ENSP00000444688.1:p.Asn334LysfsTer?
ENST00000602133.5:c.872dup	ENSP00000471581.1:p.Asn291LysfsTer?
NM_001256213.1:c.995dup	NP_001243142.1:p.Asn332LysfsTer?
NM_001256214.1:c.1001dup	NP_001243143.1:p.Asn334LysfsTer?
NM_152296.4:c.962dup	NP_689509.1:p.Asn321LysfsTer?
XM_011526991.1:c.872dup	XP_011525293.1:p.Asn291LysfsTer?
NM_152296.5:c.962dup MANE Select	NP_689509.1:p.Asn321LysfsTer?
NM_001256214.2:c.1001dup	NP_001243143.1:p.Asn334LysfsTer?
NM_001256213.2:c.995dup	NP_001243142.1:p.Asn332LysfsTer?