Canonical Allele Identifier: CA2405204853
Gene: PDGFB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.39244612_39244632delinsCGCGCGCGCGGCGTGCCCGCT , CM000684.2:g.39244612_39244632delinsCGCGCGCGCGGCGTGCCCGCT GRCh38
NC_000022.10:g.39640617_39640637delinsCGCGCGCGCGGCGTGCCCGCT , CM000684.1:g.39640617_39640637delinsCGCGCGCGCGGCGTGCCCGCT GRCh37
NC_000022.9:g.37970563_37970583delinsCGCGCGCGCGGCGTGCCCGCT NCBI36
NG_012111.1:g.5321_5341delinsAGCGGGCACGCCGCGCGCGCG

Transcript Alleles

HGVS Amino-acid Change
ENST00000331163.11:c.-669_-649delinsAGCGGGCACGCCGCGCGCGCG MANE Select ENSP00000330382.6:n.-669_-649delinsAGCGGGCACGCCGCGCGCGCG
ENST00000331163.10:c.-669_-649delinsAGCGGGCACGCCGCGCGCGCG ENSP00000330382.6:n.-669_-649delinsAGCGGGCACGCCGCGCGCGCG
NM_002608.2:c.-669_-649delinsAGCGGGCACGCCGCGCGCGCG NP_002599.1:n.-669_-649delinsAGCGGGCACGCCGCGCGCGCG
NM_002608.3:c.-669_-649delinsAGCGGGCACGCCGCGCGCGCG NP_002599.1:n.-669_-649delinsAGCGGGCACGCCGCGCGCGCG
NM_002608.4:c.-669_-649delinsAGCGGGCACGCCGCGCGCGCG MANE Select NP_002599.1:n.-669_-649delinsAGCGGGCACGCCGCGCGCGCG