Canonical Allele Identifier: CA2695228880

Gene: ATP1A3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41984939_41984941del , CM000681.2:g.41984939_41984941del	GRCh38
NC_000019.9:g.42489091_42489093del , CM000681.1:g.42489091_42489093del	GRCh37
NC_000019.8:g.47180931_47180933del	NCBI36
NG_008015.1:g.14291_14293del

Transcript Alleles

HGVS	Amino-acid change
ENST00000545399.6:c.1010_1012del	ENSP00000444688.1:p.Glu337del
ENST00000644613.1:c.971_973del	ENSP00000494711.1:p.Glu324del
ENST00000648268.1:c.971_973del MANE Select	ENSP00000498113.1:p.Glu324del
ENST00000302102.9:c.971_973del	ENSP00000302397.5:p.Glu324del
ENST00000441343.5:c.971_973del	ENSP00000411503.1:p.Glu324del
ENST00000485672.2:n.284_286del
ENST00000543770.5:c.1004_1006del	ENSP00000437577.1:p.Glu335del
ENST00000545399.5:c.1010_1012del	ENSP00000444688.1:p.Glu337del
ENST00000602133.5:c.881_883del	ENSP00000471581.1:p.Glu294del
NM_001256213.1:c.1004_1006del	NP_001243142.1:p.Glu335del
NM_001256214.1:c.1010_1012del	NP_001243143.1:p.Glu337del
NM_152296.4:c.971_973del	NP_689509.1:p.Glu324del
XM_011526991.1:c.881_883del	XP_011525293.1:p.Glu294del
NM_152296.5:c.971_973del MANE Select	NP_689509.1:p.Glu324del
NM_001256214.2:c.1010_1012del	NP_001243143.1:p.Glu337del
NM_001256213.2:c.1004_1006del	NP_001243142.1:p.Glu335del