Canonical Allele Identifier: CA2405204925
Gene: PDGFB HGNC NCBI

Linked Data

dbSNP Id: rs1195054946
gnomAD v4: 22-39244719-TCTGCGGGCTGCGGG-T
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.39244725_39244738del , CM000684.2:g.39244725_39244738del GRCh38
NC_000022.10:g.39640730_39640743del , CM000684.1:g.39640730_39640743del GRCh37
NC_000022.9:g.37970676_37970689del NCBI36
NG_012111.1:g.5220_5233del

Transcript Alleles

HGVS Amino-acid Change
ENST00000331163.11:c.-770_-757del MANE Select ENSP00000330382.6:n.-770_-757del
ENST00000331163.10:c.-770_-757del ENSP00000330382.6:n.-770_-757del
NM_002608.2:c.-770_-757del NP_002599.1:n.-770_-757del
NM_002608.3:c.-770_-757del NP_002599.1:n.-770_-757del
NM_002608.4:c.-770_-757del MANE Select NP_002599.1:n.-770_-757del
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