Canonical Allele Identifier: CA1458543905
Gene: PDGFRA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.54285826_54285827delinsTC , CM000666.2:g.54285826_54285827delinsTC GRCh38
NC_000004.11:g.55151993_55151994delinsTC , CM000666.1:g.55151993_55151994delinsTC GRCh37
NC_000004.10:g.54846750_54846751delinsTC NCBI36
NG_009250.1:g.61730_61731delinsTC , LRG_309:g.61730_61731delinsTC

Transcript Alleles

HGVS Amino-acid change
ENST00000257290.10:c.2440-15_2440-14delinsTC MANE Select ENSP00000257290.5:n.2440-15_2440-14delinsTC
ENST00000257290.9:c.2440-15_2440-14delinsTC ENSP00000257290.5:n.2440-15_2440-14delinsTC
ENST00000507166.5:c.1720-15_1720-14delinsTC ENSP00000423325.1:n.1720-15_1720-14delinsTC
NM_006206.4:c.2440-15_2440-14delinsTC , LRG_309t1:c.2440-15_2440-14delinsTC NP_006197.1:n.2440-15_2440-14delinsTC
XM_005265743.1:c.2440-15_2440-14delinsTC XP_005265800.1:n.2440-15_2440-14delinsTC
XM_006714039.2:c.2515-15_2515-14delinsTC XP_006714102.1:n.2515-15_2515-14delinsTC
XM_011534385.1:c.2440-15_2440-14delinsTC XP_011532687.1:n.2440-15_2440-14delinsTC
XM_011534386.1:c.2440-15_2440-14delinsTC XP_011532688.1:n.2440-15_2440-14delinsTC
NM_001347828.1:c.2515-15_2515-14delinsTC NP_001334757.1:n.2515-15_2515-14delinsTC
NM_001347829.1:c.2440-15_2440-14delinsTC NP_001334758.1:n.2440-15_2440-14delinsTC
NM_001347830.1:c.2479-15_2479-14delinsTC NP_001334759.1:n.2479-15_2479-14delinsTC
NM_006206.5:c.2440-15_2440-14delinsTC NP_006197.1:n.2440-15_2440-14delinsTC
NM_006206.6:c.2440-15_2440-14delinsTC MANE Select NP_006197.1:n.2440-15_2440-14delinsTC
NM_001347828.2:c.2515-15_2515-14delinsTC NP_001334757.1:n.2515-15_2515-14delinsTC
NM_001347829.2:c.2440-15_2440-14delinsTC NP_001334758.1:n.2440-15_2440-14delinsTC
NM_001347830.2:c.2479-15_2479-14delinsTC NP_001334759.1:n.2479-15_2479-14delinsTC