Canonical Allele Identifier: CA123209
Gene: PDGFRA HGNC NCBI

Linked Data

ClinVar Variation Id: 13548
ClinVar RCV Id: RCV000014507
dbSNP Id: rs587776795
COSMIC: COSM741
MyVariant Identifiers: chr4:g.55141033_55141047del (hg19) chr4:g.54274866_54274880del (hg38)
PubMed: PMID:12522257
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.54274866_54274880del , CM000666.2:g.54274866_54274880del GRCh38
NC_000004.11:g.55141033_55141047del , CM000666.1:g.55141033_55141047del GRCh37
NC_000004.10:g.54835790_54835804del NCBI36
NG_009250.1:g.50770_50784del , LRG_309:g.50770_50784del

Transcript Alleles

HGVS Amino-acid change
ENST00000257290.10:c.1679_1693del MANE Select ENSP00000257290.5:p.Arg560_Ser564del
ENST00000257290.9:c.1679_1693del ENSP00000257290.5:p.Arg560_Ser564del
ENST00000507166.5:c.1018-59_1018-45del ENSP00000423325.1:n.1018-59_1018-45del
ENST00000509092.5:n.1497_1511del
ENST00000509490.5:c.1679_1693del ENSP00000424218.1:p.Arg560_Ser564del
NM_006206.4:c.1679_1693del , LRG_309t1:c.1679_1693del NP_006197.1:p.Arg560_Ser564del
XM_005265743.1:c.1679_1693del XP_005265800.1:p.Arg560_Ser564del
XM_006714039.2:c.1754_1768del XP_006714102.1:p.Arg585_Ser589del
XM_006714041.2:c.1754_1768del XP_006714104.1:p.Arg585_Ser589del
XM_011534385.1:c.1679_1693del XP_011532687.1:p.Arg560_Ser564del
XM_011534386.1:c.1679_1693del XP_011532688.1:p.Arg560_Ser564del
NM_001347827.1:c.1679_1693del NP_001334756.1:p.Arg560_Ser564del
NM_001347828.1:c.1754_1768del NP_001334757.1:p.Arg585_Ser589del
NM_001347829.1:c.1679_1693del NP_001334758.1:p.Arg560_Ser564del
NM_001347830.1:c.1718_1732del NP_001334759.1:p.Arg573_Ser577del
NM_006206.5:c.1679_1693del NP_006197.1:p.Arg560_Ser564del
XM_006714041.3:c.1754_1768del XP_006714104.1:p.Arg585_Ser589del
XM_017008281.1:c.1718_1732del XP_016863770.1:p.Arg573_Ser577del
NM_006206.6:c.1679_1693del MANE Select NP_006197.1:p.Arg560_Ser564del
NM_001347827.2:c.1679_1693del NP_001334756.1:p.Arg560_Ser564del
NM_001347828.2:c.1754_1768del NP_001334757.1:p.Arg585_Ser589del
NM_001347829.2:c.1679_1693del NP_001334758.1:p.Arg560_Ser564del
NM_001347830.2:c.1718_1732del NP_001334759.1:p.Arg573_Ser577del
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