Canonical Allele Identifier: CA2814442102

Gene: ATP1A3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41978145_41978146insACACCCAA , CM000681.2:g.41978145_41978146insACACCCAA	GRCh38
NC_000019.9:g.42482297_42482298insACACCCAA , CM000681.1:g.42482297_42482298insACACCCAA	GRCh37
NC_000019.8:g.47174137_47174138insACACCCAA	NCBI36
NG_008015.1:g.21085_21086insTTGGGTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545399.6:c.1845+5_1845+6insTTGGGTGT	ENSP00000444688.1:n.1845+5_1845+6insTTGGGTGT
ENST00000644613.1:c.1806+5_1806+6insTTGGGTGT	ENSP00000494711.1:n.1806+5_1806+6insTTGGGTGT
ENST00000648268.1:c.1806+5_1806+6insTTGGGTGT MANE Select	ENSP00000498113.1:n.1806+5_1806+6insTTGGGTGT
ENST00000302102.9:c.1806+5_1806+6insTTGGGTGT	ENSP00000302397.5:n.1806+5_1806+6insTTGGGTGT
ENST00000441343.5:c.1806+5_1806+6insTTGGGTGT	ENSP00000411503.1:n.1806+5_1806+6insTTGGGTGT
ENST00000543770.5:c.1839+5_1839+6insTTGGGTGT	ENSP00000437577.1:n.1839+5_1839+6insTTGGGTGT
ENST00000545399.5:c.1845+5_1845+6insTTGGGTGT	ENSP00000444688.1:n.1845+5_1845+6insTTGGGTGT
ENST00000602133.5:c.1716+5_1716+6insTTGGGTGT	ENSP00000471581.1:n.1716+5_1716+6insTTGGGTGT
NM_001256213.1:c.1839+5_1839+6insTTGGGTGT	NP_001243142.1:n.1839+5_1839+6insTTGGGTGT
NM_001256214.1:c.1845+5_1845+6insTTGGGTGT	NP_001243143.1:n.1845+5_1845+6insTTGGGTGT
NM_152296.4:c.1806+5_1806+6insTTGGGTGT	NP_689509.1:n.1806+5_1806+6insTTGGGTGT
XM_011526991.1:c.1716+5_1716+6insTTGGGTGT	XP_011525293.1:n.1716+5_1716+6insTTGGGTGT
NM_152296.5:c.1806+5_1806+6insTTGGGTGT MANE Select	NP_689509.1:n.1806+5_1806+6insTTGGGTGT
NM_001256214.2:c.1845+5_1845+6insTTGGGTGT	NP_001243143.1:n.1845+5_1845+6insTTGGGTGT
NM_001256213.2:c.1839+5_1839+6insTTGGGTGT	NP_001243142.1:n.1839+5_1839+6insTTGGGTGT