Canonical Allele Identifier: CA2336727971

Gene: ATP1A3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41984929_41984932delinsCCAG , CM000681.2:g.41984929_41984932delinsCCAG	GRCh38
NC_000019.9:g.42489081_42489084delinsCCAG , CM000681.1:g.42489081_42489084delinsCCAG	GRCh37
NC_000019.8:g.47180921_47180924delinsCCAG	NCBI36
NG_008015.1:g.14299_14302delinsCTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545399.6:c.1018_1021delinsCTGG	ENSP00000444688.1:p.Leu340=
ENST00000644613.1:c.979_982delinsCTGG	ENSP00000494711.1:p.Leu327=
ENST00000648268.1:c.979_982delinsCTGG MANE Select	ENSP00000498113.1:p.Leu327=
ENST00000302102.9:c.979_982delinsCTGG	ENSP00000302397.5:p.Leu327=
ENST00000441343.5:c.979_982delinsCTGG	ENSP00000411503.1:p.Leu327=
ENST00000485672.2:n.292_295delinsCTGG
ENST00000543770.5:c.1012_1015delinsCTGG	ENSP00000437577.1:p.Leu338=
ENST00000545399.5:c.1018_1021delinsCTGG	ENSP00000444688.1:p.Leu340=
ENST00000602133.5:c.889_892delinsCTGG	ENSP00000471581.1:p.Leu297=
NM_001256213.1:c.1012_1015delinsCTGG	NP_001243142.1:p.Leu338=
NM_001256214.1:c.1018_1021delinsCTGG	NP_001243143.1:p.Leu340=
NM_152296.4:c.979_982delinsCTGG	NP_689509.1:p.Leu327=
XM_011526991.1:c.889_892delinsCTGG	XP_011525293.1:p.Leu297=
NM_152296.5:c.979_982delinsCTGG MANE Select	NP_689509.1:p.Leu327=
NM_001256214.2:c.1018_1021delinsCTGG	NP_001243143.1:p.Leu340=
NM_001256213.2:c.1012_1015delinsCTGG	NP_001243142.1:p.Leu338=