Canonical Allele Identifier: CA2814451407

Gene: ATP1A3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41984684_41984686del , CM000681.2:g.41984684_41984686del	GRCh38
NC_000019.9:g.42488836_42488838del , CM000681.1:g.42488836_42488838del	GRCh37
NC_000019.8:g.47180676_47180678del	NCBI36
NG_008015.1:g.14546_14548del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545399.6:c.1032+233_1032+235del	ENSP00000444688.1:n.1032+233_1032+235del
ENST00000644613.1:c.993+233_993+235del	ENSP00000494711.1:n.993+233_993+235del
ENST00000648268.1:c.993+233_993+235del MANE Select	ENSP00000498113.1:n.993+233_993+235del
ENST00000302102.9:c.993+233_993+235del	ENSP00000302397.5:n.993+233_993+235del
ENST00000441343.5:c.993+233_993+235del	ENSP00000411503.1:n.993+233_993+235del
ENST00000485672.2:n.539_541del
ENST00000543770.5:c.1026+233_1026+235del	ENSP00000437577.1:n.1026+233_1026+235del
ENST00000545399.5:c.1032+233_1032+235del	ENSP00000444688.1:n.1032+233_1032+235del
ENST00000602133.5:c.903+233_903+235del	ENSP00000471581.1:n.903+233_903+235del
NM_001256213.1:c.1026+233_1026+235del	NP_001243142.1:n.1026+233_1026+235del
NM_001256214.1:c.1032+233_1032+235del	NP_001243143.1:n.1032+233_1032+235del
NM_152296.4:c.993+233_993+235del	NP_689509.1:n.993+233_993+235del
XM_011526991.1:c.903+233_903+235del	XP_011525293.1:n.903+233_903+235del
NM_152296.5:c.993+233_993+235del MANE Select	NP_689509.1:n.993+233_993+235del
NM_001256214.2:c.1032+233_1032+235del	NP_001243143.1:n.1032+233_1032+235del
NM_001256213.2:c.1026+233_1026+235del	NP_001243142.1:n.1026+233_1026+235del