Canonical Allele Identifier: CA346046

Gene: ATP1A3

Linked Data

• ClinVar Variation Id: 161154
• ClinVar RCV Id: RCV000148335
• dbSNP Id: rs397515382
• MyVariant Identifiers: chr19:g.42471091_42471093dupAGT (hg19) ; chr19:g.42471090_42471091insAGT (hg19) ; chr19:g.41966939_41966941dupAGT (hg38) ; chr19:g.41966938_41966939insAGT (hg38)
• PubMed: PMID:20301294

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41966944_41966946dup , CM000681.2:g.41966944_41966946dup	GRCh38
NC_000019.9:g.42471096_42471098dup , CM000681.1:g.42471096_42471098dup	GRCh37
NC_000019.8:g.47162936_47162938dup	NCBI36
NG_008015.1:g.32290_32292dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545399.6:c.3077_3079dup	ENSP00000444688.1:p.Ter1027TyrfsTer2
ENST00000644613.1:c.3013+308_3013+310dup	ENSP00000494711.1:n.3013+308_3013+310dup
ENST00000648268.1:c.3038_3040dup MANE Select	ENSP00000498113.1:p.Ter1014TyrfsTer2
ENST00000302102.9:c.3038_3040dup	ENSP00000302397.5:p.Ter1014TyrfsTer2
ENST00000441343.5:c.3321_3323dup	ENSP00000411503.1:p.Leu1108_Thr1109insLeu
ENST00000543770.5:c.3071_3073dup	ENSP00000437577.1:p.Ter1025TyrfsTer2
ENST00000545399.5:c.3077_3079dup	ENSP00000444688.1:p.Ter1027TyrfsTer2
ENST00000602133.5:c.2948_2950dup	ENSP00000471581.1:p.Ter984TyrfsTer2
NM_001256213.1:c.3071_3073dup	NP_001243142.1:p.Ter1025TyrfsTer2
NM_001256214.1:c.3077_3079dup	NP_001243143.1:p.Ter1027TyrfsTer2
NM_152296.4:c.3038_3040dup	NP_689509.1:p.Ter1014TyrfsTer2
XM_011526991.1:c.2948_2950dup	XP_011525293.1:p.Ter984TyrfsTer2
NM_152296.5:c.3038_3040dup MANE Select	NP_689509.1:p.Ter1014TyrfsTer2
NM_001256214.2:c.3077_3079dup	NP_001243143.1:p.Ter1027TyrfsTer2
NM_001256213.2:c.3071_3073dup	NP_001243142.1:p.Ter1025TyrfsTer2