Canonical Allele Identifier: CA10654769

Gene: ATP1A3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41970211_41970215delinsGA , CM000681.2:g.41970211_41970215delinsGA	GRCh38
NC_000019.9:g.42474363_42474367delinsGA , CM000681.1:g.42474363_42474367delinsGA	GRCh37
NC_000019.8:g.47166203_47166207delinsGA	NCBI36
NG_008015.1:g.29016_29020delinsTC

Transcript Alleles

HGVS	Amino-acid Change
NM_152296.5:c.2512_2516delinsTC MANE Select	NP_689509.1:p.Arg838_Leu839delinsSer
ENST00000648268.1:c.2512_2516delinsTC MANE Select	ENSP00000498113.1:p.Arg838_Leu839delinsSer
NM_001256213.1:c.2545_2549delinsTC	NP_001243142.1:p.Arg849_Leu850delinsSer
NM_001256213.2:c.2545_2549delinsTC	NP_001243142.1:p.Arg849_Leu850delinsSer
NM_001256214.1:c.2551_2555delinsTC	NP_001243143.1:p.Arg851_Leu852delinsSer
NM_001256214.2:c.2551_2555delinsTC	NP_001243143.1:p.Arg851_Leu852delinsSer
NM_152296.4:c.2512_2516delinsTC	NP_689509.1:p.Arg838_Leu839delinsSer
ENST00000302102.9:c.2512_2516delinsTC	ENSP00000302397.5:p.Arg838_Leu839delinsSer
ENST00000441343.5:c.2512_2516delinsTC	ENSP00000411503.1:p.Arg838_Leu839delinsSer
ENST00000543770.5:c.2545_2549delinsTC	ENSP00000437577.1:p.Arg849_Leu850delinsSer
ENST00000545399.5:c.2551_2555delinsTC	ENSP00000444688.1:p.Arg851_Leu852delinsSer
ENST00000545399.6:c.2551_2555delinsTC	ENSP00000444688.1:p.Arg851_Leu852delinsSer
ENST00000602133.5:c.2422_2426delinsTC	ENSP00000471581.1:p.Arg808_Leu809delinsSer
ENST00000644613.1:c.2512_2516delinsTC	ENSP00000494711.1:p.Arg838_Leu839delinsSer
XM_011526991.1:c.2422_2426delinsTC	XP_011525293.1:p.Arg808_Leu809delinsSer