Canonical Allele Identifier: CA2528967086

Gene: ATP1A3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41978119_41978120insGGCC , CM000681.2:g.41978119_41978120insGGCC	GRCh38
NC_000019.9:g.42482271_42482272insGGCC , CM000681.1:g.42482271_42482272insGGCC	GRCh37
NC_000019.8:g.47174111_47174112insGGCC	NCBI36
NG_008015.1:g.21111_21112insGGCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545399.6:c.1845+31_1845+32insGGCC	ENSP00000444688.1:n.1845+31_1845+32insGGCC
ENST00000644613.1:c.1806+31_1806+32insGGCC	ENSP00000494711.1:n.1806+31_1806+32insGGCC
ENST00000648268.1:c.1806+31_1806+32insGGCC MANE Select	ENSP00000498113.1:n.1806+31_1806+32insGGCC
ENST00000302102.9:c.1806+31_1806+32insGGCC	ENSP00000302397.5:n.1806+31_1806+32insGGCC
ENST00000441343.5:c.1806+31_1806+32insGGCC	ENSP00000411503.1:n.1806+31_1806+32insGGCC
ENST00000543770.5:c.1839+31_1839+32insGGCC	ENSP00000437577.1:n.1839+31_1839+32insGGCC
ENST00000545399.5:c.1845+31_1845+32insGGCC	ENSP00000444688.1:n.1845+31_1845+32insGGCC
ENST00000602133.5:c.1716+31_1716+32insGGCC	ENSP00000471581.1:n.1716+31_1716+32insGGCC
NM_001256213.1:c.1839+31_1839+32insGGCC	NP_001243142.1:n.1839+31_1839+32insGGCC
NM_001256214.1:c.1845+31_1845+32insGGCC	NP_001243143.1:n.1845+31_1845+32insGGCC
NM_152296.4:c.1806+31_1806+32insGGCC	NP_689509.1:n.1806+31_1806+32insGGCC
XM_011526991.1:c.1716+31_1716+32insGGCC	XP_011525293.1:n.1716+31_1716+32insGGCC
NM_152296.5:c.1806+31_1806+32insGGCC MANE Select	NP_689509.1:n.1806+31_1806+32insGGCC
NM_001256214.2:c.1845+31_1845+32insGGCC	NP_001243143.1:n.1845+31_1845+32insGGCC
NM_001256213.2:c.1839+31_1839+32insGGCC	NP_001243142.1:n.1839+31_1839+32insGGCC