Canonical Allele Identifier: CA1458537024

Gene: PDGFRA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.54285927_54285939delinsCATCATGCATGAT , CM000666.2:g.54285927_54285939delinsCATCATGCATGAT	GRCh38
NC_000004.11:g.55152094_55152106delinsCATCATGCATGAT , CM000666.1:g.55152094_55152106delinsCATCATGCATGAT	GRCh37
NC_000004.10:g.54846851_54846863delinsCATCATGCATGAT	NCBI36
NG_009250.1:g.61831_61843delinsCATCATGCATGAT , LRG_309:g.61831_61843delinsCATCATGCATGAT

Transcript Alleles

HGVS	Amino-acid change
ENST00000257290.10:c.2526_2538delinsCATCATGCATGAT MANE Select	ENSP00000257290.5:p.Asp842=
ENST00000257290.9:c.2526_2538delinsCATCATGCATGAT	ENSP00000257290.5:p.Asp842=
ENST00000507166.5:c.1806_1818delinsCATCATGCATGAT	ENSP00000423325.1:p.Asp602=
NM_006206.4:c.2526_2538delinsCATCATGCATGAT , LRG_309t1:c.2526_2538delinsCATCATGCATGAT	NP_006197.1:p.Asp842=
XM_005265743.1:c.2526_2538delinsCATCATGCATGAT	XP_005265800.1:p.Asp842=
XM_006714039.2:c.2601_2613delinsCATCATGCATGAT	XP_006714102.1:p.Asp867=
XM_011534385.1:c.2526_2538delinsCATCATGCATGAT	XP_011532687.1:p.Asp842=
XM_011534386.1:c.2526_2538delinsCATCATGCATGAT	XP_011532688.1:p.Asp842=
NM_001347828.1:c.2601_2613delinsCATCATGCATGAT	NP_001334757.1:p.Asp867=
NM_001347829.1:c.2526_2538delinsCATCATGCATGAT	NP_001334758.1:p.Asp842=
NM_001347830.1:c.2565_2577delinsCATCATGCATGAT	NP_001334759.1:p.Asp855=
NM_006206.5:c.2526_2538delinsCATCATGCATGAT	NP_006197.1:p.Asp842=
NM_006206.6:c.2526_2538delinsCATCATGCATGAT MANE Select	NP_006197.1:p.Asp842=
NM_001347828.2:c.2601_2613delinsCATCATGCATGAT	NP_001334757.1:p.Asp867=
NM_001347829.2:c.2526_2538delinsCATCATGCATGAT	NP_001334758.1:p.Asp842=
NM_001347830.2:c.2565_2577delinsCATCATGCATGAT	NP_001334759.1:p.Asp855=