Canonical Allele Identifier: CA2573156418

Gene: ATP1A3

Linked Data

• ClinVar Variation Id: 1435421
• ClinVar RCV Id: RCV002001830
• dbSNP Id: rs2145978673

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41985364_41985365delinsCA , CM000681.2:g.41985364_41985365delinsCA	GRCh38
NC_000019.9:g.42489516_42489517delinsCA , CM000681.1:g.42489516_42489517delinsCA	GRCh37
NC_000019.8:g.47181356_47181357delinsCA	NCBI36
NG_008015.1:g.13866_13867delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545399.6:c.704_705delinsTG	ENSP00000444688.1:p.Thr235Met
ENST00000644613.1:c.665_666delinsTG	ENSP00000494711.1:p.Thr222Met
ENST00000645448.1:n.897_898delinsTG
ENST00000648268.1:c.665_666delinsTG MANE Select	ENSP00000498113.1:p.Thr222Met
ENST00000302102.9:c.665_666delinsTG	ENSP00000302397.5:p.Thr222Met
ENST00000441343.5:c.665_666delinsTG	ENSP00000411503.1:p.Thr222Met
ENST00000473086.3:c.575_576delinsTG	ENSP00000469129.2:p.Thr192Met
ENST00000543770.5:c.698_699delinsTG	ENSP00000437577.1:p.Thr233Met
ENST00000545399.5:c.704_705delinsTG	ENSP00000444688.1:p.Thr235Met
ENST00000602133.5:c.575_576delinsTG	ENSP00000471581.1:p.Thr192Met
NM_001256213.1:c.698_699delinsTG	NP_001243142.1:p.Thr233Met
NM_001256214.1:c.704_705delinsTG	NP_001243143.1:p.Thr235Met
NM_152296.4:c.665_666delinsTG	NP_689509.1:p.Thr222Met
XM_011526991.1:c.575_576delinsTG	XP_011525293.1:p.Thr192Met
NM_152296.5:c.665_666delinsTG MANE Select	NP_689509.1:p.Thr222Met
NM_001256214.2:c.704_705delinsTG	NP_001243143.1:p.Thr235Met
NM_001256213.2:c.698_699delinsTG	NP_001243142.1:p.Thr233Met