Canonical Allele Identifier: CA2962768756

Gene: ATP1A3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41970430dup , CM000681.2:g.41970430dup	GRCh38
NC_000019.9:g.42474582dup , CM000681.1:g.42474582dup	GRCh37
NC_000019.8:g.47166422dup	NCBI36
NG_008015.1:g.28803dup

Transcript Alleles

HGVS	Amino-acid Change
NM_152296.5:c.2378dup MANE Select	NP_689509.1:p.Thr794HisfsTer12
ENST00000648268.1:c.2378dup MANE Select	ENSP00000498113.1:p.Thr794HisfsTer12
NM_001256213.1:c.2411dup	NP_001243142.1:p.Thr805HisfsTer12
NM_001256213.2:c.2411dup	NP_001243142.1:p.Thr805HisfsTer12
NM_001256214.1:c.2417dup	NP_001243143.1:p.Thr807HisfsTer12
NM_001256214.2:c.2417dup	NP_001243143.1:p.Thr807HisfsTer12
NM_152296.4:c.2378dup	NP_689509.1:p.Thr794HisfsTer12
ENST00000302102.9:c.2378dup	ENSP00000302397.5:p.Thr794HisfsTer12
ENST00000441343.5:c.2378dup	ENSP00000411503.1:p.Thr794HisfsTer12
ENST00000543770.5:c.2411dup	ENSP00000437577.1:p.Thr805HisfsTer12
ENST00000545399.5:c.2417dup	ENSP00000444688.1:p.Thr807HisfsTer12
ENST00000545399.6:c.2417dup	ENSP00000444688.1:p.Thr807HisfsTer12
ENST00000602133.5:c.2288dup	ENSP00000471581.1:p.Thr764HisfsTer12
ENST00000644613.1:c.2378dup	ENSP00000494711.1:p.Thr794HisfsTer12
XM_011526991.1:c.2288dup	XP_011525293.1:p.Thr764HisfsTer12