Canonical Allele Identifier: CA1458536967
Gene: PDGFRA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.54285924_54285937delinsAGACATCATGCATG , CM000666.2:g.54285924_54285937delinsAGACATCATGCATG GRCh38
NC_000004.11:g.55152091_55152104delinsAGACATCATGCATG , CM000666.1:g.55152091_55152104delinsAGACATCATGCATG GRCh37
NC_000004.10:g.54846848_54846861delinsAGACATCATGCATG NCBI36
NG_009250.1:g.61828_61841delinsAGACATCATGCATG , LRG_309:g.61828_61841delinsAGACATCATGCATG

Transcript Alleles

HGVS Amino-acid Change
ENST00000257290.10:c.2523_2536delinsAGACATCATGCATG MANE Select ENSP00000257290.5:p.Arg841=
ENST00000257290.9:c.2523_2536delinsAGACATCATGCATG ENSP00000257290.5:p.Arg841=
ENST00000507166.5:c.1803_1816delinsAGACATCATGCATG ENSP00000423325.1:p.Arg601=
NM_006206.4:c.2523_2536delinsAGACATCATGCATG , LRG_309t1:c.2523_2536delinsAGACATCATGCATG NP_006197.1:p.Arg841=
XM_005265743.1:c.2523_2536delinsAGACATCATGCATG XP_005265800.1:p.Arg841=
XM_006714039.2:c.2598_2611delinsAGACATCATGCATG XP_006714102.1:p.Arg866=
XM_011534385.1:c.2523_2536delinsAGACATCATGCATG XP_011532687.1:p.Arg841=
XM_011534386.1:c.2523_2536delinsAGACATCATGCATG XP_011532688.1:p.Arg841=
NM_001347828.1:c.2598_2611delinsAGACATCATGCATG NP_001334757.1:p.Arg866=
NM_001347829.1:c.2523_2536delinsAGACATCATGCATG NP_001334758.1:p.Arg841=
NM_001347830.1:c.2562_2575delinsAGACATCATGCATG NP_001334759.1:p.Arg854=
NM_006206.5:c.2523_2536delinsAGACATCATGCATG NP_006197.1:p.Arg841=
NM_006206.6:c.2523_2536delinsAGACATCATGCATG MANE Select NP_006197.1:p.Arg841=
NM_001347828.2:c.2598_2611delinsAGACATCATGCATG NP_001334757.1:p.Arg866=
NM_001347829.2:c.2523_2536delinsAGACATCATGCATG NP_001334758.1:p.Arg841=
NM_001347830.2:c.2562_2575delinsAGACATCATGCATG NP_001334759.1:p.Arg854=