Canonical Allele Identifier: CA10621197

Gene: PDGFRA

Linked Data

• ClinVar Variation Id: 348925
• ClinVar RCV Id: RCV000282283 ; RCV000334944
• dbSNP Id: rs34529347
• gnomAD v2: 4-55162534-GTTT-G
• gnomAD v3: 4-54296367-GTTT-G
• gnomAD v4: 4-54296367-GTTT-G
• COSMIC: COSN20100055 ; COSN20100056
• MyVariant Identifiers: chr4:g.55162548_55162550del (hg19) ; chr4:g.55162536_55162538del (hg19) ; chr4:g.55162535_55162537del (hg19) ; chr4:g.54296381_54296383del (hg38) ; chr4:g.54296369_54296371del (hg38) ; chr4:g.54296368_54296370del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.54296381_54296383del , CM000666.2:g.54296381_54296383del	GRCh38
NC_000004.11:g.55162548_55162550del , CM000666.1:g.55162548_55162550del	GRCh37
NC_000004.10:g.54857305_54857307del	NCBI36
NG_009250.1:g.72285_72287del , LRG_309:g.72285_72287del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257290.10:c.*1109_*1111del MANE Select	ENSP00000257290.5:n.*1109_*1111del
ENST00000257290.9:c.*1109_*1111del	ENSP00000257290.5:n.*1109_*1111del
NM_006206.4:c.*1109_*1111del , LRG_309t1:c.*1109_*1111del	NP_006197.1:n.*1109_*1111del
XM_005265743.1:c.*1109_*1111del	XP_005265800.1:n.*1109_*1111del
XM_006714039.2:c.*1109_*1111del	XP_006714102.1:n.*1109_*1111del
XM_011534385.1:c.*1109_*1111del	XP_011532687.1:n.*1109_*1111del
XM_011534386.1:c.*1109_*1111del	XP_011532688.1:n.*1109_*1111del
NM_001347828.1:c.*1109_*1111del	NP_001334757.1:n.*1109_*1111del
NM_001347829.1:c.*1109_*1111del	NP_001334758.1:n.*1109_*1111del
NM_001347830.1:c.*1109_*1111del	NP_001334759.1:n.*1109_*1111del
NM_006206.5:c.*1109_*1111del	NP_006197.1:n.*1109_*1111del
NM_006206.6:c.*1109_*1111del MANE Select	NP_006197.1:n.*1109_*1111del
NM_001347828.2:c.*1109_*1111del	NP_001334757.1:n.*1109_*1111del
NM_001347829.2:c.*1109_*1111del	NP_001334758.1:n.*1109_*1111del
NM_001347830.2:c.*1109_*1111del	NP_001334759.1:n.*1109_*1111del