Canonical Allele Identifier: CA2695228881

Gene: ATP1A3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41985037_41985048del , CM000681.2:g.41985037_41985048del	GRCh38
NC_000019.9:g.42489189_42489200del , CM000681.1:g.42489189_42489200del	GRCh37
NC_000019.8:g.47181029_47181040del	NCBI36
NG_008015.1:g.14186_14197del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545399.6:c.905_916del	ENSP00000444688.1:p.Ala302_Leu305del
ENST00000644613.1:c.866_877del	ENSP00000494711.1:p.Ala289_Leu292del
ENST00000648268.1:c.866_877del MANE Select	ENSP00000498113.1:p.Ala289_Leu292del
ENST00000302102.9:c.866_877del	ENSP00000302397.5:p.Ala289_Leu292del
ENST00000441343.5:c.866_877del	ENSP00000411503.1:p.Ala289_Leu292del
ENST00000485672.2:n.179_190del
ENST00000543770.5:c.899_910del	ENSP00000437577.1:p.Ala300_Leu303del
ENST00000545399.5:c.905_916del	ENSP00000444688.1:p.Ala302_Leu305del
ENST00000602133.5:c.776_787del	ENSP00000471581.1:p.Ala259_Leu262del
NM_001256213.1:c.899_910del	NP_001243142.1:p.Ala300_Leu303del
NM_001256214.1:c.905_916del	NP_001243143.1:p.Ala302_Leu305del
NM_152296.4:c.866_877del	NP_689509.1:p.Ala289_Leu292del
XM_011526991.1:c.776_787del	XP_011525293.1:p.Ala259_Leu262del
NM_152296.5:c.866_877del MANE Select	NP_689509.1:p.Ala289_Leu292del
NM_001256214.2:c.905_916del	NP_001243143.1:p.Ala302_Leu305del
NM_001256213.2:c.899_910del	NP_001243142.1:p.Ala300_Leu303del