Canonical Allele Identifier: CA645526429
Community Standard Title: NM_006206.6(PDGFRA):c.2524_2526delinsTAT (p.Asp842Tyr)
Gene: PDGFRA HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.54285925_54285927delinsTAT , CM000666.2:g.54285925_54285927delinsTAT GRCh38
NC_000004.11:g.55152092_55152094delinsTAT , CM000666.1:g.55152092_55152094delinsTAT GRCh37
NC_000004.10:g.54846849_54846851delinsTAT NCBI36
NG_009250.1:g.61829_61831delinsTAT , LRG_309:g.61829_61831delinsTAT

Transcript Alleles

HGVS Amino-acid Change
NM_006206.6:c.2524_2526delinsTAT MANE Select NP_006197.1:p.Asp842Tyr
ENST00000257290.10:c.2524_2526delinsTAT MANE Select ENSP00000257290.5:p.Asp842Tyr
NM_001347828.1:c.2599_2601delinsTAT NP_001334757.1:p.Asp867Tyr
NM_001347828.2:c.2599_2601delinsTAT NP_001334757.1:p.Asp867Tyr
NM_001347829.1:c.2524_2526delinsTAT NP_001334758.1:p.Asp842Tyr
NM_001347829.2:c.2524_2526delinsTAT NP_001334758.1:p.Asp842Tyr
NM_001347830.1:c.2563_2565delinsTAT NP_001334759.1:p.Asp855Tyr
NM_001347830.2:c.2563_2565delinsTAT NP_001334759.1:p.Asp855Tyr
NM_006206.4:c.2524_2526delinsTAT , LRG_309t1:c.2524_2526delinsTAT NP_006197.1:p.Asp842Tyr
NM_006206.5:c.2524_2526delinsTAT NP_006197.1:p.Asp842Tyr
ENST00000257290.9:c.2524_2526delinsTAT ENSP00000257290.5:p.Asp842Tyr
ENST00000507166.5:c.1804_1806delinsTAT ENSP00000423325.1:p.Asp602Tyr
XM_005265743.1:c.2524_2526delinsTAT XP_005265800.1:p.Asp842Tyr
XM_006714039.2:c.2599_2601delinsTAT XP_006714102.1:p.Asp867Tyr
XM_011534385.1:c.2524_2526delinsTAT XP_011532687.1:p.Asp842Tyr
XM_011534386.1:c.2524_2526delinsTAT XP_011532688.1:p.Asp842Tyr
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