Canonical Allele Identifier: CA1458536950

Gene: PDGFRA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.54285920_54285926delinsCCAGAGA , CM000666.2:g.54285920_54285926delinsCCAGAGA	GRCh38
NC_000004.11:g.55152087_55152093delinsCCAGAGA , CM000666.1:g.55152087_55152093delinsCCAGAGA	GRCh37
NC_000004.10:g.54846844_54846850delinsCCAGAGA	NCBI36
NG_009250.1:g.61824_61830delinsCCAGAGA , LRG_309:g.61824_61830delinsCCAGAGA

Transcript Alleles

HGVS	Amino-acid change
ENST00000257290.10:c.2519_2525delinsCCAGAGA MANE Select	ENSP00000257290.5:p.Ala840=
ENST00000257290.9:c.2519_2525delinsCCAGAGA	ENSP00000257290.5:p.Ala840=
ENST00000507166.5:c.1799_1805delinsCCAGAGA	ENSP00000423325.1:p.Ala600=
NM_006206.4:c.2519_2525delinsCCAGAGA , LRG_309t1:c.2519_2525delinsCCAGAGA	NP_006197.1:p.Ala840=
XM_005265743.1:c.2519_2525delinsCCAGAGA	XP_005265800.1:p.Ala840=
XM_006714039.2:c.2594_2600delinsCCAGAGA	XP_006714102.1:p.Ala865=
XM_011534385.1:c.2519_2525delinsCCAGAGA	XP_011532687.1:p.Ala840=
XM_011534386.1:c.2519_2525delinsCCAGAGA	XP_011532688.1:p.Ala840=
NM_001347828.1:c.2594_2600delinsCCAGAGA	NP_001334757.1:p.Ala865=
NM_001347829.1:c.2519_2525delinsCCAGAGA	NP_001334758.1:p.Ala840=
NM_001347830.1:c.2558_2564delinsCCAGAGA	NP_001334759.1:p.Ala853=
NM_006206.5:c.2519_2525delinsCCAGAGA	NP_006197.1:p.Ala840=
NM_006206.6:c.2519_2525delinsCCAGAGA MANE Select	NP_006197.1:p.Ala840=
NM_001347828.2:c.2594_2600delinsCCAGAGA	NP_001334757.1:p.Ala865=
NM_001347829.2:c.2519_2525delinsCCAGAGA	NP_001334758.1:p.Ala840=
NM_001347830.2:c.2558_2564delinsCCAGAGA	NP_001334759.1:p.Ala853=