Canonical Allele Identifier: CA882392104

Gene: ATP1A3

Linked Data

• dbSNP Id: rs1313740256
• MyVariant Identifiers: chr19:g.41984523_41984524del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41984524_41984525del , CM000681.2:g.41984524_41984525del	GRCh38
NC_000019.9:g.42488676_42488677del , CM000681.1:g.42488676_42488677del	GRCh37
NC_000019.8:g.47180516_47180517del	NCBI36
NG_008015.1:g.14707_14708del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545399.6:c.1032+394_1032+395del	ENSP00000444688.1:n.1032+394_1032+395del
ENST00000644613.1:c.993+394_993+395del	ENSP00000494711.1:n.993+394_993+395del
ENST00000648268.1:c.993+394_993+395del MANE Select	ENSP00000498113.1:n.993+394_993+395del
ENST00000302102.9:c.993+394_993+395del	ENSP00000302397.5:n.993+394_993+395del
ENST00000441343.5:c.993+394_993+395del	ENSP00000411503.1:n.993+394_993+395del
ENST00000485672.2:n.700_701del
ENST00000543770.5:c.1026+394_1026+395del	ENSP00000437577.1:n.1026+394_1026+395del
ENST00000545399.5:c.1032+394_1032+395del	ENSP00000444688.1:n.1032+394_1032+395del
ENST00000602133.5:c.903+394_903+395del	ENSP00000471581.1:n.903+394_903+395del
NM_001256213.1:c.1026+394_1026+395del	NP_001243142.1:n.1026+394_1026+395del
NM_001256214.1:c.1032+394_1032+395del	NP_001243143.1:n.1032+394_1032+395del
NM_152296.4:c.993+394_993+395del	NP_689509.1:n.993+394_993+395del
XM_011526991.1:c.903+394_903+395del	XP_011525293.1:n.903+394_903+395del
NM_152296.5:c.993+394_993+395del MANE Select	NP_689509.1:n.993+394_993+395del
NM_001256214.2:c.1032+394_1032+395del	NP_001243143.1:n.1032+394_1032+395del
NM_001256213.2:c.1026+394_1026+395del	NP_001243142.1:n.1026+394_1026+395del