Canonical Allele Identifier: CA2499217252

Gene: PDGFRA

Linked Data

• ClinVar Variation Id: 1049734
• ClinVar RCV Id: RCV001356217
• dbSNP Id: rs2110299426

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.54274863_54274868del , CM000666.2:g.54274863_54274868del	GRCh38
NC_000004.11:g.55141030_55141035del , CM000666.1:g.55141030_55141035del	GRCh37
NC_000004.10:g.54835787_54835792del	NCBI36
NG_009250.1:g.50767_50772del , LRG_309:g.50767_50772del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257290.10:c.1676_1681del MANE Select	ENSP00000257290.5:p.Trp559_Val561delinsPhe
ENST00000257290.9:c.1676_1681del	ENSP00000257290.5:p.Trp559_Val561delinsPhe
ENST00000507166.5:c.1018-62_1018-57del	ENSP00000423325.1:n.1018-62_1018-57del
ENST00000509092.5:n.1494_1499del
ENST00000509490.5:c.1676_1681del	ENSP00000424218.1:p.Trp559_Val561delinsPhe
NM_006206.4:c.1676_1681del , LRG_309t1:c.1676_1681del	NP_006197.1:p.Trp559_Val561delinsPhe
XM_005265743.1:c.1676_1681del	XP_005265800.1:p.Trp559_Val561delinsPhe
XM_006714039.2:c.1751_1756del	XP_006714102.1:p.Trp584_Val586delinsPhe
XM_006714041.2:c.1751_1756del	XP_006714104.1:p.Trp584_Val586delinsPhe
XM_011534385.1:c.1676_1681del	XP_011532687.1:p.Trp559_Val561delinsPhe
XM_011534386.1:c.1676_1681del	XP_011532688.1:p.Trp559_Val561delinsPhe
NM_001347827.1:c.1676_1681del	NP_001334756.1:p.Trp559_Val561delinsPhe
NM_001347828.1:c.1751_1756del	NP_001334757.1:p.Trp584_Val586delinsPhe
NM_001347829.1:c.1676_1681del	NP_001334758.1:p.Trp559_Val561delinsPhe
NM_001347830.1:c.1715_1720del	NP_001334759.1:p.Trp572_Val574delinsPhe
NM_006206.5:c.1676_1681del	NP_006197.1:p.Trp559_Val561delinsPhe
XM_006714041.3:c.1751_1756del	XP_006714104.1:p.Trp584_Val586delinsPhe
XM_017008281.1:c.1715_1720del	XP_016863770.1:p.Trp572_Val574delinsPhe
NM_006206.6:c.1676_1681del MANE Select	NP_006197.1:p.Trp559_Val561delinsPhe
NM_001347827.2:c.1676_1681del	NP_001334756.1:p.Trp559_Val561delinsPhe
NM_001347828.2:c.1751_1756del	NP_001334757.1:p.Trp584_Val586delinsPhe
NM_001347829.2:c.1676_1681del	NP_001334758.1:p.Trp559_Val561delinsPhe
NM_001347830.2:c.1715_1720del	NP_001334759.1:p.Trp572_Val574delinsPhe