Canonical Allele Identifier: CA753040380
Gene: PDGFB HGNC NCBI

Linked Data

dbSNP Id: rs1395317820

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.39244719_39244732del , CM000684.2:g.39244719_39244732del GRCh38
NC_000022.10:g.39640724_39640737del , CM000684.1:g.39640724_39640737del GRCh37
NC_000022.9:g.37970670_37970683del NCBI36
NG_012111.1:g.5221_5234del

Transcript Alleles

HGVS Amino-acid Change
ENST00000331163.11:c.-769_-756del MANE Select ENSP00000330382.6:n.-769_-756del
ENST00000331163.10:c.-769_-756del ENSP00000330382.6:n.-769_-756del
NM_002608.2:c.-769_-756del NP_002599.1:n.-769_-756del
NM_002608.3:c.-769_-756del NP_002599.1:n.-769_-756del
NM_002608.4:c.-769_-756del MANE Select NP_002599.1:n.-769_-756del