Canonical Allele Identifier: CA2573105901

Gene: ATP1A3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41970517_41970519del , CM000681.2:g.41970517_41970519del	GRCh38
NC_000019.9:g.42474669_42474671del , CM000681.1:g.42474669_42474671del	GRCh37
NC_000019.8:g.47166509_47166511del	NCBI36
NG_008015.1:g.28715_28717del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545399.6:c.2329_2331del	ENSP00000444688.1:p.Lys777del
ENST00000644613.1:c.2290_2292del	ENSP00000494711.1:p.Lys764del
ENST00000648268.1:c.2290_2292del MANE Select	ENSP00000498113.1:p.Lys764del
ENST00000302102.9:c.2290_2292del	ENSP00000302397.5:p.Lys764del
ENST00000441343.5:c.2290_2292del	ENSP00000411503.1:p.Lys764del
ENST00000543770.5:c.2323_2325del	ENSP00000437577.1:p.Lys775del
ENST00000545399.5:c.2329_2331del	ENSP00000444688.1:p.Lys777del
ENST00000602133.5:c.2200_2202del	ENSP00000471581.1:p.Lys734del
NM_001256213.1:c.2323_2325del	NP_001243142.1:p.Lys775del
NM_001256214.1:c.2329_2331del	NP_001243143.1:p.Lys777del
NM_152296.4:c.2290_2292del	NP_689509.1:p.Lys764del
XM_011526991.1:c.2200_2202del	XP_011525293.1:p.Lys734del
NM_152296.5:c.2290_2292del MANE Select	NP_689509.1:p.Lys764del
NM_001256214.2:c.2329_2331del	NP_001243143.1:p.Lys777del
NM_001256213.2:c.2323_2325del	NP_001243142.1:p.Lys775del