Canonical Allele Identifier: CA2502089397

Gene: ATP1A3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41978113_41978114insTGCTGGC , CM000681.2:g.41978113_41978114insTGCTGGC	GRCh38
NC_000019.9:g.42482265_42482266insTGCTGGC , CM000681.1:g.42482265_42482266insTGCTGGC	GRCh37
NC_000019.8:g.47174105_47174106insTGCTGGC	NCBI36
NG_008015.1:g.21118_21119insCCAGCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545399.6:c.1845+38_1846-40insCCAGCAG	ENSP00000444688.1:n.1845+38_1846-40insCCAGCAG
ENST00000644613.1:c.1806+38_1807-40insCCAGCAG	ENSP00000494711.1:n.1806+38_1807-40insCCAGCAG
ENST00000648268.1:c.1806+38_1807-40insCCAGCAG MANE Select	ENSP00000498113.1:n.1806+38_1807-40insCCAGCAG
ENST00000302102.9:c.1806+38_1807-40insCCAGCAG	ENSP00000302397.5:n.1806+38_1807-40insCCAGCAG
ENST00000441343.5:c.1806+38_1807-40insCCAGCAG	ENSP00000411503.1:n.1806+38_1807-40insCCAGCAG
ENST00000543770.5:c.1839+38_1840-40insCCAGCAG	ENSP00000437577.1:n.1839+38_1840-40insCCAGCAG
ENST00000545399.5:c.1845+38_1846-40insCCAGCAG	ENSP00000444688.1:n.1845+38_1846-40insCCAGCAG
ENST00000602133.5:c.1716+38_1717-40insCCAGCAG	ENSP00000471581.1:n.1716+38_1717-40insCCAGCAG
NM_001256213.1:c.1839+38_1840-40insCCAGCAG	NP_001243142.1:n.1839+38_1840-40insCCAGCAG
NM_001256214.1:c.1845+38_1846-40insCCAGCAG	NP_001243143.1:n.1845+38_1846-40insCCAGCAG
NM_152296.4:c.1806+38_1807-40insCCAGCAG	NP_689509.1:n.1806+38_1807-40insCCAGCAG
XM_011526991.1:c.1716+38_1717-40insCCAGCAG	XP_011525293.1:n.1716+38_1717-40insCCAGCAG
NM_152296.5:c.1806+38_1807-40insCCAGCAG MANE Select	NP_689509.1:n.1806+38_1807-40insCCAGCAG
NM_001256214.2:c.1845+38_1846-40insCCAGCAG	NP_001243143.1:n.1845+38_1846-40insCCAGCAG
NM_001256213.2:c.1839+38_1840-40insCCAGCAG	NP_001243142.1:n.1839+38_1840-40insCCAGCAG