Canonical Allele Identifier: CA2512950795

Gene: ATP1A3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41978122_41978123insCTGGTCC , CM000681.2:g.41978122_41978123insCTGGTCC	GRCh38
NC_000019.9:g.42482274_42482275insCTGGTCC , CM000681.1:g.42482274_42482275insCTGGTCC	GRCh37
NC_000019.8:g.47174114_47174115insCTGGTCC	NCBI36
NG_008015.1:g.21108_21109insGGACCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545399.6:c.1845+28_1845+29insGGACCAG	ENSP00000444688.1:n.1845+28_1845+29insGGACCAG
ENST00000644613.1:c.1806+28_1806+29insGGACCAG	ENSP00000494711.1:n.1806+28_1806+29insGGACCAG
ENST00000648268.1:c.1806+28_1806+29insGGACCAG MANE Select	ENSP00000498113.1:n.1806+28_1806+29insGGACCAG
ENST00000302102.9:c.1806+28_1806+29insGGACCAG	ENSP00000302397.5:n.1806+28_1806+29insGGACCAG
ENST00000441343.5:c.1806+28_1806+29insGGACCAG	ENSP00000411503.1:n.1806+28_1806+29insGGACCAG
ENST00000543770.5:c.1839+28_1839+29insGGACCAG	ENSP00000437577.1:n.1839+28_1839+29insGGACCAG
ENST00000545399.5:c.1845+28_1845+29insGGACCAG	ENSP00000444688.1:n.1845+28_1845+29insGGACCAG
ENST00000602133.5:c.1716+28_1716+29insGGACCAG	ENSP00000471581.1:n.1716+28_1716+29insGGACCAG
NM_001256213.1:c.1839+28_1839+29insGGACCAG	NP_001243142.1:n.1839+28_1839+29insGGACCAG
NM_001256214.1:c.1845+28_1845+29insGGACCAG	NP_001243143.1:n.1845+28_1845+29insGGACCAG
NM_152296.4:c.1806+28_1806+29insGGACCAG	NP_689509.1:n.1806+28_1806+29insGGACCAG
XM_011526991.1:c.1716+28_1716+29insGGACCAG	XP_011525293.1:n.1716+28_1716+29insGGACCAG
NM_152296.5:c.1806+28_1806+29insGGACCAG MANE Select	NP_689509.1:n.1806+28_1806+29insGGACCAG
NM_001256214.2:c.1845+28_1845+29insGGACCAG	NP_001243143.1:n.1845+28_1845+29insGGACCAG
NM_001256213.2:c.1839+28_1839+29insGGACCAG	NP_001243142.1:n.1839+28_1839+29insGGACCAG