Canonical Allele Identifier: CA96859707
Gene: PDGFRA HGNC NCBI

Linked Data

dbSNP Id: rs121913271
COSMIC: COSM742

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.54274883_54274900delinsCGC , CM000666.2:g.54274883_54274900delinsCGC GRCh38
NC_000004.11:g.55141050_55141067delinsCGC , CM000666.1:g.55141050_55141067delinsCGC GRCh37
NC_000004.10:g.54835807_54835824delinsCGC NCBI36
NG_009250.1:g.50787_50804delinsCGC , LRG_309:g.50787_50804delinsCGC

Transcript Alleles

HGVS Amino-acid change
ENST00000257290.10:c.1696_1713delinsCGC MANE Select ENSP00000257290.5:p.Ser566_Glu571delinsAr...
ENST00000257290.9:c.1696_1713delinsCGC ENSP00000257290.5:p.Ser566_Glu571delinsAr...
ENST00000507166.5:c.1018-42_1018-25delinsCGC ENSP00000423325.1:n.1018-42_1018-25delins...
ENST00000509092.5:n.1514_1531delinsCGC
ENST00000509490.5:c.1696_1713delinsCGC ENSP00000424218.1:p.Ser566_Glu571delinsAr...
NM_006206.4:c.1696_1713delinsCGC , LRG_309t1:c.1696_1713delinsCGC NP_006197.1:p.Ser566_Glu571delinsArg
XM_005265743.1:c.1696_1713delinsCGC XP_005265800.1:p.Ser566_Glu571delinsArg
XM_006714039.2:c.1771_1788delinsCGC XP_006714102.1:p.Ser591_Glu596delinsArg
XM_006714041.2:c.1771_1788delinsCGC XP_006714104.1:p.Ser591_Glu596delinsArg
XM_011534385.1:c.1696_1713delinsCGC XP_011532687.1:p.Ser566_Glu571delinsArg
XM_011534386.1:c.1696_1713delinsCGC XP_011532688.1:p.Ser566_Glu571delinsArg
NM_001347827.1:c.1696_1713delinsCGC NP_001334756.1:p.Ser566_Glu571delinsArg
NM_001347828.1:c.1771_1788delinsCGC NP_001334757.1:p.Ser591_Glu596delinsArg
NM_001347829.1:c.1696_1713delinsCGC NP_001334758.1:p.Ser566_Glu571delinsArg
NM_001347830.1:c.1735_1752delinsCGC NP_001334759.1:p.Ser579_Glu584delinsArg
NM_006206.5:c.1696_1713delinsCGC NP_006197.1:p.Ser566_Glu571delinsArg
XM_006714041.3:c.1771_1788delinsCGC XP_006714104.1:p.Ser591_Glu596delinsArg
XM_017008281.1:c.1735_1752delinsCGC XP_016863770.1:p.Ser579_Glu584delinsArg
NM_006206.6:c.1696_1713delinsCGC MANE Select NP_006197.1:p.Ser566_Glu571delinsArg
NM_001347827.2:c.1696_1713delinsCGC NP_001334756.1:p.Ser566_Glu571delinsArg
NM_001347828.2:c.1771_1788delinsCGC NP_001334757.1:p.Ser591_Glu596delinsArg
NM_001347829.2:c.1696_1713delinsCGC NP_001334758.1:p.Ser566_Glu571delinsArg
NM_001347830.2:c.1735_1752delinsCGC NP_001334759.1:p.Ser579_Glu584delinsArg