Canonical Allele Identifier: CA2336721071

Gene: ATP1A3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41970172_41970178delinsCCCGGTG , CM000681.2:g.41970172_41970178delinsCCCGGTG	GRCh38
NC_000019.9:g.42474324_42474330delinsCCCGGTG , CM000681.1:g.42474324_42474330delinsCCCGGTG	GRCh37
NC_000019.8:g.47166164_47166170delinsCCCGGTG	NCBI36
NG_008015.1:g.29053_29059delinsCACCGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545399.6:c.2581+7_2581+13delinsCACCGGG	ENSP00000444688.1:n.2581+7_2581+13delinsCACCGGG
ENST00000644613.1:c.2542+7_2542+13delinsCACCGGG	ENSP00000494711.1:n.2542+7_2542+13delinsCACCGGG
ENST00000648268.1:c.2542+7_2542+13delinsCACCGGG MANE Select	ENSP00000498113.1:n.2542+7_2542+13delinsCACCGGG
ENST00000302102.9:c.2542+7_2542+13delinsCACCGGG	ENSP00000302397.5:n.2542+7_2542+13delinsCACCGGG
ENST00000441343.5:c.2542+7_2542+13delinsCACCGGG	ENSP00000411503.1:n.2542+7_2542+13delinsCACCGGG
ENST00000543770.5:c.2575+7_2575+13delinsCACCGGG	ENSP00000437577.1:n.2575+7_2575+13delinsCACCGGG
ENST00000545399.5:c.2581+7_2581+13delinsCACCGGG	ENSP00000444688.1:n.2581+7_2581+13delinsCACCGGG
ENST00000602133.5:c.2452+7_2452+13delinsCACCGGG	ENSP00000471581.1:n.2452+7_2452+13delinsCACCGGG
NM_001256213.1:c.2575+7_2575+13delinsCACCGGG	NP_001243142.1:n.2575+7_2575+13delinsCACCGGG
NM_001256214.1:c.2581+7_2581+13delinsCACCGGG	NP_001243143.1:n.2581+7_2581+13delinsCACCGGG
NM_152296.4:c.2542+7_2542+13delinsCACCGGG	NP_689509.1:n.2542+7_2542+13delinsCACCGGG
XM_011526991.1:c.2452+7_2452+13delinsCACCGGG	XP_011525293.1:n.2452+7_2452+13delinsCACCGGG
NM_152296.5:c.2542+7_2542+13delinsCACCGGG MANE Select	NP_689509.1:n.2542+7_2542+13delinsCACCGGG
NM_001256214.2:c.2581+7_2581+13delinsCACCGGG	NP_001243143.1:n.2581+7_2581+13delinsCACCGGG
NM_001256213.2:c.2575+7_2575+13delinsCACCGGG	NP_001243142.1:n.2575+7_2575+13delinsCACCGGG