Canonical Allele Identifier: CA1458536999
Gene: PDGFRA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.54285925_54285926delinsGA , CM000666.2:g.54285925_54285926delinsGA GRCh38
NC_000004.11:g.55152092_55152093delinsGA , CM000666.1:g.55152092_55152093delinsGA GRCh37
NC_000004.10:g.54846849_54846850delinsGA NCBI36
NG_009250.1:g.61829_61830delinsGA , LRG_309:g.61829_61830delinsGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000257290.10:c.2524_2525delinsGA MANE Select ENSP00000257290.5:p.Asp842=
ENST00000257290.9:c.2524_2525delinsGA ENSP00000257290.5:p.Asp842=
ENST00000507166.5:c.1804_1805delinsGA ENSP00000423325.1:p.Asp602=
NM_006206.4:c.2524_2525delinsGA , LRG_309t1:c.2524_2525delinsGA NP_006197.1:p.Asp842=
XM_005265743.1:c.2524_2525delinsGA XP_005265800.1:p.Asp842=
XM_006714039.2:c.2599_2600delinsGA XP_006714102.1:p.Asp867=
XM_011534385.1:c.2524_2525delinsGA XP_011532687.1:p.Asp842=
XM_011534386.1:c.2524_2525delinsGA XP_011532688.1:p.Asp842=
NM_001347828.1:c.2599_2600delinsGA NP_001334757.1:p.Asp867=
NM_001347829.1:c.2524_2525delinsGA NP_001334758.1:p.Asp842=
NM_001347830.1:c.2563_2564delinsGA NP_001334759.1:p.Asp855=
NM_006206.5:c.2524_2525delinsGA NP_006197.1:p.Asp842=
NM_006206.6:c.2524_2525delinsGA MANE Select NP_006197.1:p.Asp842=
NM_001347828.2:c.2599_2600delinsGA NP_001334757.1:p.Asp867=
NM_001347829.2:c.2524_2525delinsGA NP_001334758.1:p.Asp842=
NM_001347830.2:c.2563_2564delinsGA NP_001334759.1:p.Asp855=