Canonical Allele Identifier: CA2922432

Gene: PDGFRA

Linked Data

• ClinVar Variation Id: 1917034
• ClinVar RCV Id: RCV002625493
• dbSNP Id: rs759438471
• ExAC: 4:55133701 AAAC / A
• gnomAD v2: 4-55133701-AAAC-A
• gnomAD v4: 4-54267534-AAAC-A
• MyVariant Identifiers: chr4:g.55133702_55133704del (hg19) ; chr4:g.54267535_54267537del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.54267535_54267537del , CM000666.2:g.54267535_54267537del	GRCh38
NC_000004.11:g.55133702_55133704del , CM000666.1:g.55133702_55133704del	GRCh37
NC_000004.10:g.54828459_54828461del	NCBI36
NG_009250.1:g.43439_43441del , LRG_309:g.43439_43441del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257290.10:c.932-17_932-15del MANE Select	ENSP00000257290.5:n.932-17_932-15del
ENST00000257290.9:c.932-17_932-15del	ENSP00000257290.5:n.932-17_932-15del
ENST00000507166.5:c.1018-7390_1018-7388del	ENSP00000423325.1:n.1018-7390_1018-7388del
ENST00000509092.5:n.750-17_750-15del
ENST00000509490.5:c.932-17_932-15del	ENSP00000424218.1:n.932-17_932-15del
NM_006206.4:c.932-17_932-15del , LRG_309t1:c.932-17_932-15del	NP_006197.1:n.932-17_932-15del
XM_005265743.1:c.932-17_932-15del	XP_005265800.1:n.932-17_932-15del
XM_006714039.2:c.1007-17_1007-15del	XP_006714102.1:n.1007-17_1007-15del
XM_006714041.2:c.1007-17_1007-15del	XP_006714104.1:n.1007-17_1007-15del
XM_011534385.1:c.932-17_932-15del	XP_011532687.1:n.932-17_932-15del
XM_011534386.1:c.932-17_932-15del	XP_011532688.1:n.932-17_932-15del
NM_001347827.1:c.932-17_932-15del	NP_001334756.1:n.932-17_932-15del
NM_001347828.1:c.1007-17_1007-15del	NP_001334757.1:n.1007-17_1007-15del
NM_001347829.1:c.932-17_932-15del	NP_001334758.1:n.932-17_932-15del
NM_001347830.1:c.971-17_971-15del	NP_001334759.1:n.971-17_971-15del
NM_006206.5:c.932-17_932-15del	NP_006197.1:n.932-17_932-15del
XM_006714041.3:c.1007-17_1007-15del	XP_006714104.1:n.1007-17_1007-15del
XM_017008281.1:c.971-17_971-15del	XP_016863770.1:n.971-17_971-15del
NM_006206.6:c.932-17_932-15del MANE Select	NP_006197.1:n.932-17_932-15del
NM_001347827.2:c.932-17_932-15del	NP_001334756.1:n.932-17_932-15del
NM_001347828.2:c.1007-17_1007-15del	NP_001334757.1:n.1007-17_1007-15del
NM_001347829.2:c.932-17_932-15del	NP_001334758.1:n.932-17_932-15del
NM_001347830.2:c.971-17_971-15del	NP_001334759.1:n.971-17_971-15del