Canonical Allele Identifier: CA645526433

Gene: PDGFRA

Linked Data

• dbSNP Id: rs2110338134
• COSMIC: COSM405285

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.54285926_54285928del , CM000666.2:g.54285926_54285928del	GRCh38
NC_000004.11:g.55152093_55152095del , CM000666.1:g.55152093_55152095del	GRCh37
NC_000004.10:g.54846850_54846852del	NCBI36
NG_009250.1:g.61830_61832del , LRG_309:g.61830_61832del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257290.10:c.2525_2527del MANE Select	ENSP00000257290.5:p.Asp842_Ile843delinsVal
ENST00000257290.9:c.2525_2527del	ENSP00000257290.5:p.Asp842_Ile843delinsVal
ENST00000507166.5:c.1805_1807del	ENSP00000423325.1:p.Asp602_Ile603delinsVal
NM_006206.4:c.2525_2527del , LRG_309t1:c.2525_2527del	NP_006197.1:p.Asp842_Ile843delinsVal
XM_005265743.1:c.2525_2527del	XP_005265800.1:p.Asp842_Ile843delinsVal
XM_006714039.2:c.2600_2602del	XP_006714102.1:p.Asp867_Ile868delinsVal
XM_011534385.1:c.2525_2527del	XP_011532687.1:p.Asp842_Ile843delinsVal
XM_011534386.1:c.2525_2527del	XP_011532688.1:p.Asp842_Ile843delinsVal
NM_001347828.1:c.2600_2602del	NP_001334757.1:p.Asp867_Ile868delinsVal
NM_001347829.1:c.2525_2527del	NP_001334758.1:p.Asp842_Ile843delinsVal
NM_001347830.1:c.2564_2566del	NP_001334759.1:p.Asp855_Ile856delinsVal
NM_006206.5:c.2525_2527del	NP_006197.1:p.Asp842_Ile843delinsVal
NM_006206.6:c.2525_2527del MANE Select	NP_006197.1:p.Asp842_Ile843delinsVal
NM_001347828.2:c.2600_2602del	NP_001334757.1:p.Asp867_Ile868delinsVal
NM_001347829.2:c.2525_2527del	NP_001334758.1:p.Asp842_Ile843delinsVal
NM_001347830.2:c.2564_2566del	NP_001334759.1:p.Asp855_Ile856delinsVal