Canonical Allele Identifier: CA2814451415

Gene: ATP1A3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41985216_41985304del , CM000681.2:g.41985216_41985304del	GRCh38
NC_000019.9:g.42489368_42489456del , CM000681.1:g.42489368_42489456del	GRCh37
NC_000019.8:g.47181208_47181296del	NCBI36
NG_008015.1:g.13927_14015del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545399.6:c.763+2_764-30del	ENSP00000444688.1:n.763+2_764-30del
ENST00000644613.1:c.724+2_725-30del	ENSP00000494711.1:n.724+2_725-30del
ENST00000645448.1:n.958_1046del
ENST00000648268.1:c.724+2_725-30del MANE Select	ENSP00000498113.1:n.724+2_725-30del
ENST00000302102.9:c.724+2_725-30del	ENSP00000302397.5:n.724+2_725-30del
ENST00000441343.5:c.724+2_725-30del	ENSP00000411503.1:n.724+2_725-30del
ENST00000473086.3:c.634+2_635-30del	ENSP00000469129.2:n.634+2_635-30del
ENST00000485672.2:n.37+2_38-30del
ENST00000543770.5:c.757+2_758-30del	ENSP00000437577.1:n.757+2_758-30del
ENST00000545399.5:c.763+2_764-30del	ENSP00000444688.1:n.763+2_764-30del
ENST00000602133.5:c.634+2_635-30del	ENSP00000471581.1:n.634+2_635-30del
NM_001256213.1:c.757+2_758-30del	NP_001243142.1:n.757+2_758-30del
NM_001256214.1:c.763+2_764-30del	NP_001243143.1:n.763+2_764-30del
NM_152296.4:c.724+2_725-30del	NP_689509.1:n.724+2_725-30del
XM_011526991.1:c.634+2_635-30del	XP_011525293.1:n.634+2_635-30del
NM_152296.5:c.724+2_725-30del MANE Select	NP_689509.1:n.724+2_725-30del
NM_001256214.2:c.763+2_764-30del	NP_001243143.1:n.763+2_764-30del
NM_001256213.2:c.757+2_758-30del	NP_001243142.1:n.757+2_758-30del