Canonical Allele Identifier: CA1458537017

Gene: PDGFRA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.54285926_54285942delinsACATCATGCATGATTCG , CM000666.2:g.54285926_54285942delinsACATCATGCATGATTCG	GRCh38
NC_000004.11:g.55152093_55152109delinsACATCATGCATGATTCG , CM000666.1:g.55152093_55152109delinsACATCATGCATGATTCG	GRCh37
NC_000004.10:g.54846850_54846866delinsACATCATGCATGATTCG	NCBI36
NG_009250.1:g.61830_61846delinsACATCATGCATGATTCG , LRG_309:g.61830_61846delinsACATCATGCATGATTCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257290.10:c.2525_2541delinsACATCATGCATGATTCG MANE Select	ENSP00000257290.5:p.Asp842=
ENST00000257290.9:c.2525_2541delinsACATCATGCATGATTCG	ENSP00000257290.5:p.Asp842=
ENST00000507166.5:c.1805_1821delinsACATCATGCATGATTCG	ENSP00000423325.1:p.Asp602=
NM_006206.4:c.2525_2541delinsACATCATGCATGATTCG , LRG_309t1:c.2525_2541delinsACATCATGCATGATTCG	NP_006197.1:p.Asp842=
XM_005265743.1:c.2525_2541delinsACATCATGCATGATTCG	XP_005265800.1:p.Asp842=
XM_006714039.2:c.2600_2616delinsACATCATGCATGATTCG	XP_006714102.1:p.Asp867=
XM_011534385.1:c.2525_2541delinsACATCATGCATGATTCG	XP_011532687.1:p.Asp842=
XM_011534386.1:c.2525_2541delinsACATCATGCATGATTCG	XP_011532688.1:p.Asp842=
NM_001347828.1:c.2600_2616delinsACATCATGCATGATTCG	NP_001334757.1:p.Asp867=
NM_001347829.1:c.2525_2541delinsACATCATGCATGATTCG	NP_001334758.1:p.Asp842=
NM_001347830.1:c.2564_2580delinsACATCATGCATGATTCG	NP_001334759.1:p.Asp855=
NM_006206.5:c.2525_2541delinsACATCATGCATGATTCG	NP_006197.1:p.Asp842=
NM_006206.6:c.2525_2541delinsACATCATGCATGATTCG MANE Select	NP_006197.1:p.Asp842=
NM_001347828.2:c.2600_2616delinsACATCATGCATGATTCG	NP_001334757.1:p.Asp867=
NM_001347829.2:c.2525_2541delinsACATCATGCATGATTCG	NP_001334758.1:p.Asp842=
NM_001347830.2:c.2564_2580delinsACATCATGCATGATTCG	NP_001334759.1:p.Asp855=