Canonical Allele Identifier: CA346002

Gene: ATP1A3

Linked Data

• dbSNP Id: rs397515578
• MyVariant Identifiers: chr19:g.42489082_42489084del (hg19) ; chr19:g.41984930_41984932del (hg38)
• PubMed: PMID:20301294

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41984933_41984935del , CM000681.2:g.41984933_41984935del	GRCh38
NC_000019.9:g.42489085_42489087del , CM000681.1:g.42489085_42489087del	GRCh37
NC_000019.8:g.47180925_47180927del	NCBI36
NG_008015.1:g.14299_14301del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545399.6:c.1018_1020del	ENSP00000444688.1:p.Leu340del
ENST00000644613.1:c.979_981del	ENSP00000494711.1:p.Leu327del
ENST00000648268.1:c.979_981del MANE Select	ENSP00000498113.1:p.Leu327del
ENST00000302102.9:c.979_981del	ENSP00000302397.5:p.Leu327del
ENST00000441343.5:c.979_981del	ENSP00000411503.1:p.Leu327del
ENST00000485672.2:n.292_294del
ENST00000543770.5:c.1012_1014del	ENSP00000437577.1:p.Leu338del
ENST00000545399.5:c.1018_1020del	ENSP00000444688.1:p.Leu340del
ENST00000602133.5:c.889_891del	ENSP00000471581.1:p.Leu297del
NM_001256213.1:c.1012_1014del	NP_001243142.1:p.Leu338del
NM_001256214.1:c.1018_1020del	NP_001243143.1:p.Leu340del
NM_152296.4:c.979_981del	NP_689509.1:p.Leu327del
XM_011526991.1:c.889_891del	XP_011525293.1:p.Leu297del
NM_152296.5:c.979_981del MANE Select	NP_689509.1:p.Leu327del
NM_001256214.2:c.1018_1020del	NP_001243143.1:p.Leu340del
NM_001256213.2:c.1012_1014del	NP_001243142.1:p.Leu338del