Canonical Allele Identifier: CA645526432

Gene: PDGFRA

Linked Data

• dbSNP Id: rs121913264
• COSMIC: COSM29007

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.54285925_54285926delinsTT , CM000666.2:g.54285925_54285926delinsTT	GRCh38
NC_000004.11:g.55152092_55152093delinsTT , CM000666.1:g.55152092_55152093delinsTT	GRCh37
NC_000004.10:g.54846849_54846850delinsTT	NCBI36
NG_009250.1:g.61829_61830delinsTT , LRG_309:g.61829_61830delinsTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000257290.10:c.2524_2525delinsTT MANE Select	ENSP00000257290.5:p.Asp842Phe
ENST00000257290.9:c.2524_2525delinsTT	ENSP00000257290.5:p.Asp842Phe
ENST00000507166.5:c.1804_1805delinsTT	ENSP00000423325.1:p.Asp602Phe
NM_006206.4:c.2524_2525delinsTT , LRG_309t1:c.2524_2525delinsTT	NP_006197.1:p.Asp842Phe
XM_005265743.1:c.2524_2525delinsTT	XP_005265800.1:p.Asp842Phe
XM_006714039.2:c.2599_2600delinsTT	XP_006714102.1:p.Asp867Phe
XM_011534385.1:c.2524_2525delinsTT	XP_011532687.1:p.Asp842Phe
XM_011534386.1:c.2524_2525delinsTT	XP_011532688.1:p.Asp842Phe
NM_001347828.1:c.2599_2600delinsTT	NP_001334757.1:p.Asp867Phe
NM_001347829.1:c.2524_2525delinsTT	NP_001334758.1:p.Asp842Phe
NM_001347830.1:c.2563_2564delinsTT	NP_001334759.1:p.Asp855Phe
NM_006206.5:c.2524_2525delinsTT	NP_006197.1:p.Asp842Phe
NM_006206.6:c.2524_2525delinsTT MANE Select	NP_006197.1:p.Asp842Phe
NM_001347828.2:c.2599_2600delinsTT	NP_001334757.1:p.Asp867Phe
NM_001347829.2:c.2524_2525delinsTT	NP_001334758.1:p.Asp842Phe
NM_001347830.2:c.2563_2564delinsTT	NP_001334759.1:p.Asp855Phe