Canonical Allele Identifier: CA2405204858
Gene: PDGFB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.39244619_39244649delinsGCGGCGTGCCCGCTGCGCGCTCGGCTGGGCC , CM000684.2:g.39244619_39244649delinsGCGGCGTGCCCGCTGCGCGCTCGGCTGGGCC GRCh38
NC_000022.10:g.39640624_39640654delinsGCGGCGTGCCCGCTGCGCGCTCGGCTGGGCC , CM000684.1:g.39640624_39640654delinsGCGGCGTGCCCGCTGCGCGCTCGGCTGGGCC GRCh37
NC_000022.9:g.37970570_37970600delinsGCGGCGTGCCCGCTGCGCGCTCGGCTGGGCC NCBI36
NG_012111.1:g.5304_5334delinsGGCCCAGCCGAGCGCGCAGCGGGCACGCCGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000331163.11:c.-686_-656delinsGGCCCAGCCGAGCGCGCAGCGGGCACGCCGC MANE Select ENSP00000330382.6:n.-686_-656delinsGGCCCAGCCGAGCGCGCAGCGGGCAC...
ENST00000331163.10:c.-686_-656delinsGGCCCAGCCGAGCGCGCAGCGGGCACGCCGC ENSP00000330382.6:n.-686_-656delinsGGCCCAGCCGAGCGCGCAGCGGGCAC...
NM_002608.2:c.-686_-656delinsGGCCCAGCCGAGCGCGCAGCGGGCACGCCGC NP_002599.1:n.-686_-656delinsGGCCCAGCCGAGCGCGCAGCGGGCACGCCGC
NM_002608.3:c.-686_-656delinsGGCCCAGCCGAGCGCGCAGCGGGCACGCCGC NP_002599.1:n.-686_-656delinsGGCCCAGCCGAGCGCGCAGCGGGCACGCCGC
NM_002608.4:c.-686_-656delinsGGCCCAGCCGAGCGCGCAGCGGGCACGCCGC MANE Select NP_002599.1:n.-686_-656delinsGGCCCAGCCGAGCGCGCAGCGGGCACGCCGC