Canonical Allele Identifier: CA658820703
Community Standard Title: NM_006206.6(PDGFRA):c.2525_2529delinsTCATG (p.Asp842_Ile843delinsValMet)
Gene: PDGFRA HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.54285926_54285930delinsTCATG , CM000666.2:g.54285926_54285930delinsTCATG GRCh38
NC_000004.11:g.55152093_55152097delinsTCATG , CM000666.1:g.55152093_55152097delinsTCATG GRCh37
NC_000004.10:g.54846850_54846854delinsTCATG NCBI36
NG_009250.1:g.61830_61834delinsTCATG , LRG_309:g.61830_61834delinsTCATG

Transcript Alleles

HGVS Amino-acid Change
NM_006206.6:c.2525_2529delinsTCATG MANE Select NP_006197.1:p.Asp842_Ile843delinsValMet
ENST00000257290.10:c.2525_2529delinsTCATG MANE Select ENSP00000257290.5:p.Asp842_Ile843delinsValMet
NM_001347828.1:c.2600_2604delinsTCATG NP_001334757.1:p.Asp867_Ile868delinsValMet
NM_001347828.2:c.2600_2604delinsTCATG NP_001334757.1:p.Asp867_Ile868delinsValMet
NM_001347829.1:c.2525_2529delinsTCATG NP_001334758.1:p.Asp842_Ile843delinsValMet
NM_001347829.2:c.2525_2529delinsTCATG NP_001334758.1:p.Asp842_Ile843delinsValMet
NM_001347830.1:c.2564_2568delinsTCATG NP_001334759.1:p.Asp855_Ile856delinsValMet
NM_001347830.2:c.2564_2568delinsTCATG NP_001334759.1:p.Asp855_Ile856delinsValMet
NM_006206.4:c.2525_2529delinsTCATG , LRG_309t1:c.2525_2529delinsTCATG NP_006197.1:p.Asp842_Ile843delinsValMet
NM_006206.5:c.2525_2529delinsTCATG NP_006197.1:p.Asp842_Ile843delinsValMet
ENST00000257290.9:c.2525_2529delinsTCATG ENSP00000257290.5:p.Asp842_Ile843delinsValMet
ENST00000507166.5:c.1805_1809delinsTCATG ENSP00000423325.1:p.Asp602_Ile603delinsValMet
XM_005265743.1:c.2525_2529delinsTCATG XP_005265800.1:p.Asp842_Ile843delinsValMet
XM_006714039.2:c.2600_2604delinsTCATG XP_006714102.1:p.Asp867_Ile868delinsValMet
XM_011534385.1:c.2525_2529delinsTCATG XP_011532687.1:p.Asp842_Ile843delinsValMet
XM_011534386.1:c.2525_2529delinsTCATG XP_011532688.1:p.Asp842_Ile843delinsValMet
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