Canonical Allele Identifier: CA1458537029
Gene: PDGFRA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.54285928_54285940delinsATCATGCATGATT , CM000666.2:g.54285928_54285940delinsATCATGCATGATT GRCh38
NC_000004.11:g.55152095_55152107delinsATCATGCATGATT , CM000666.1:g.55152095_55152107delinsATCATGCATGATT GRCh37
NC_000004.10:g.54846852_54846864delinsATCATGCATGATT NCBI36
NG_009250.1:g.61832_61844delinsATCATGCATGATT , LRG_309:g.61832_61844delinsATCATGCATGATT

Transcript Alleles

HGVS Amino-acid change
ENST00000257290.10:c.2527_2539delinsATCATGCATGATT MANE Select ENSP00000257290.5:p.Ile843=
ENST00000257290.9:c.2527_2539delinsATCATGCATGATT ENSP00000257290.5:p.Ile843=
ENST00000507166.5:c.1807_1819delinsATCATGCATGATT ENSP00000423325.1:p.Ile603=
NM_006206.4:c.2527_2539delinsATCATGCATGATT , LRG_309t1:c.2527_2539delinsATCATGCATGATT NP_006197.1:p.Ile843=
XM_005265743.1:c.2527_2539delinsATCATGCATGATT XP_005265800.1:p.Ile843=
XM_006714039.2:c.2602_2614delinsATCATGCATGATT XP_006714102.1:p.Ile868=
XM_011534385.1:c.2527_2539delinsATCATGCATGATT XP_011532687.1:p.Ile843=
XM_011534386.1:c.2527_2539delinsATCATGCATGATT XP_011532688.1:p.Ile843=
NM_001347828.1:c.2602_2614delinsATCATGCATGATT NP_001334757.1:p.Ile868=
NM_001347829.1:c.2527_2539delinsATCATGCATGATT NP_001334758.1:p.Ile843=
NM_001347830.1:c.2566_2578delinsATCATGCATGATT NP_001334759.1:p.Ile856=
NM_006206.5:c.2527_2539delinsATCATGCATGATT NP_006197.1:p.Ile843=
NM_006206.6:c.2527_2539delinsATCATGCATGATT MANE Select NP_006197.1:p.Ile843=
NM_001347828.2:c.2602_2614delinsATCATGCATGATT NP_001334757.1:p.Ile868=
NM_001347829.2:c.2527_2539delinsATCATGCATGATT NP_001334758.1:p.Ile843=
NM_001347830.2:c.2566_2578delinsATCATGCATGATT NP_001334759.1:p.Ile856=