Canonical Allele Identifier: CA996012160

Gene: ATP1A3

Linked Data

• gnomAD v3: 19-41985364-AG-A
• gnomAD v4: 19-41985364-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41985365del , CM000681.2:g.41985365del	GRCh38
NC_000019.9:g.42489517del , CM000681.1:g.42489517del	GRCh37
NC_000019.8:g.47181357del	NCBI36
NG_008015.1:g.13866del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545399.6:c.704del	ENSP00000444688.1:p.Thr235IlefsTer?
ENST00000644613.1:c.665del	ENSP00000494711.1:p.Thr222IlefsTer?
ENST00000645448.1:n.897del
ENST00000648268.1:c.665del MANE Select	ENSP00000498113.1:p.Thr222IlefsTer?
ENST00000302102.9:c.665del	ENSP00000302397.5:p.Thr222IlefsTer?
ENST00000441343.5:c.665del	ENSP00000411503.1:p.Thr222IlefsTer?
ENST00000473086.3:c.575del	ENSP00000469129.2:p.Thr192IlefsTer?
ENST00000543770.5:c.698del	ENSP00000437577.1:p.Thr233IlefsTer?
ENST00000545399.5:c.704del	ENSP00000444688.1:p.Thr235IlefsTer?
ENST00000602133.5:c.575del	ENSP00000471581.1:p.Thr192IlefsTer?
NM_001256213.1:c.698del	NP_001243142.1:p.Thr233IlefsTer?
NM_001256214.1:c.704del	NP_001243143.1:p.Thr235IlefsTer?
NM_152296.4:c.665del	NP_689509.1:p.Thr222IlefsTer?
XM_011526991.1:c.575del	XP_011525293.1:p.Thr192IlefsTer?
NM_152296.5:c.665del MANE Select	NP_689509.1:p.Thr222IlefsTer?
NM_001256214.2:c.704del	NP_001243143.1:p.Thr235IlefsTer?
NM_001256213.2:c.698del	NP_001243142.1:p.Thr233IlefsTer?