Canonical Allele Identifier: CA2580071257

Gene: PDGFRA

Linked Data

• ClinVar Variation Id: 1975032
• ClinVar RCV Id: RCV002746409

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.54267559_54267560delinsGA , CM000666.2:g.54267559_54267560delinsGA	GRCh38
NC_000004.11:g.55133726_55133727delinsGA , CM000666.1:g.55133726_55133727delinsGA	GRCh37
NC_000004.10:g.54828483_54828484delinsGA	NCBI36
NG_009250.1:g.43463_43464delinsGA , LRG_309:g.43463_43464delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257290.10:c.939_940delinsGA MANE Select	ENSP00000257290.5:p.Phe314Ile
ENST00000257290.9:c.939_940delinsGA	ENSP00000257290.5:p.Phe314Ile
ENST00000507166.5:c.1018-7366_1018-7365delinsGA	ENSP00000423325.1:n.1018-7366_1018-7365delinsGA
ENST00000509092.5:n.757_758delinsGA
ENST00000509490.5:c.939_940delinsGA	ENSP00000424218.1:p.Phe314Ile
NM_006206.4:c.939_940delinsGA , LRG_309t1:c.939_940delinsGA	NP_006197.1:p.Phe314Ile
XM_005265743.1:c.939_940delinsGA	XP_005265800.1:p.Phe314Ile
XM_006714039.2:c.1014_1015delinsGA	XP_006714102.1:p.Phe339Ile
XM_006714041.2:c.1014_1015delinsGA	XP_006714104.1:p.Phe339Ile
XM_011534385.1:c.939_940delinsGA	XP_011532687.1:p.Phe314Ile
XM_011534386.1:c.939_940delinsGA	XP_011532688.1:p.Phe314Ile
NM_001347827.1:c.939_940delinsGA	NP_001334756.1:p.Phe314Ile
NM_001347828.1:c.1014_1015delinsGA	NP_001334757.1:p.Phe339Ile
NM_001347829.1:c.939_940delinsGA	NP_001334758.1:p.Phe314Ile
NM_001347830.1:c.978_979delinsGA	NP_001334759.1:p.Phe327Ile
NM_006206.5:c.939_940delinsGA	NP_006197.1:p.Phe314Ile
XM_006714041.3:c.1014_1015delinsGA	XP_006714104.1:p.Phe339Ile
XM_017008281.1:c.978_979delinsGA	XP_016863770.1:p.Phe327Ile
NM_006206.6:c.939_940delinsGA MANE Select	NP_006197.1:p.Phe314Ile
NM_001347827.2:c.939_940delinsGA	NP_001334756.1:p.Phe314Ile
NM_001347828.2:c.1014_1015delinsGA	NP_001334757.1:p.Phe339Ile
NM_001347829.2:c.939_940delinsGA	NP_001334758.1:p.Phe314Ile
NM_001347830.2:c.978_979delinsGA	NP_001334759.1:p.Phe327Ile