Canonical Allele Identifier: CA1458536994

Gene: PDGFRA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.54285925_54285939delinsGACATCATGCATGAT , CM000666.2:g.54285925_54285939delinsGACATCATGCATGAT	GRCh38
NC_000004.11:g.55152092_55152106delinsGACATCATGCATGAT , CM000666.1:g.55152092_55152106delinsGACATCATGCATGAT	GRCh37
NC_000004.10:g.54846849_54846863delinsGACATCATGCATGAT	NCBI36
NG_009250.1:g.61829_61843delinsGACATCATGCATGAT , LRG_309:g.61829_61843delinsGACATCATGCATGAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257290.10:c.2524_2538delinsGACATCATGCATGAT MANE Select	ENSP00000257290.5:p.Asp842=
ENST00000257290.9:c.2524_2538delinsGACATCATGCATGAT	ENSP00000257290.5:p.Asp842=
ENST00000507166.5:c.1804_1818delinsGACATCATGCATGAT	ENSP00000423325.1:p.Asp602=
NM_006206.4:c.2524_2538delinsGACATCATGCATGAT , LRG_309t1:c.2524_2538delinsGACATCATGCATGAT	NP_006197.1:p.Asp842=
XM_005265743.1:c.2524_2538delinsGACATCATGCATGAT	XP_005265800.1:p.Asp842=
XM_006714039.2:c.2599_2613delinsGACATCATGCATGAT	XP_006714102.1:p.Asp867=
XM_011534385.1:c.2524_2538delinsGACATCATGCATGAT	XP_011532687.1:p.Asp842=
XM_011534386.1:c.2524_2538delinsGACATCATGCATGAT	XP_011532688.1:p.Asp842=
NM_001347828.1:c.2599_2613delinsGACATCATGCATGAT	NP_001334757.1:p.Asp867=
NM_001347829.1:c.2524_2538delinsGACATCATGCATGAT	NP_001334758.1:p.Asp842=
NM_001347830.1:c.2563_2577delinsGACATCATGCATGAT	NP_001334759.1:p.Asp855=
NM_006206.5:c.2524_2538delinsGACATCATGCATGAT	NP_006197.1:p.Asp842=
NM_006206.6:c.2524_2538delinsGACATCATGCATGAT MANE Select	NP_006197.1:p.Asp842=
NM_001347828.2:c.2599_2613delinsGACATCATGCATGAT	NP_001334757.1:p.Asp867=
NM_001347829.2:c.2524_2538delinsGACATCATGCATGAT	NP_001334758.1:p.Asp842=
NM_001347830.2:c.2563_2577delinsGACATCATGCATGAT	NP_001334759.1:p.Asp855=