Canonical Allele Identifier: CA638966392
Gene: PDGFB HGNC NCBI

Linked Data

dbSNP Id: rs1195054946
gnomAD v2: 22-39640724-T-TCTGCGGG
gnomAD v3: 22-39244719-T-TCTGCGGG
gnomAD v4: 22-39244719-T-TCTGCGGG
MyVariant Identifiers: chr22:g.39640731_39640732insCTGCGGG (hg19) chr22:g.39640724_39640725insCTGCGGG (hg19) chr22:g.39244726_39244727insCTGCGGG (hg38) chr22:g.39244719_39244720insCTGCGGG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.39244732_39244738dup , CM000684.2:g.39244732_39244738dup GRCh38
NC_000022.10:g.39640737_39640743dup , CM000684.1:g.39640737_39640743dup GRCh37
NC_000022.9:g.37970683_37970689dup NCBI36
NG_012111.1:g.5227_5233dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000331163.11:c.-763_-757dup MANE Select ENSP00000330382.6:n.-763_-757dup
ENST00000331163.10:c.-763_-757dup ENSP00000330382.6:n.-763_-757dup
NM_002608.2:c.-763_-757dup NP_002599.1:n.-763_-757dup
NM_002608.3:c.-763_-757dup NP_002599.1:n.-763_-757dup
NM_002608.4:c.-763_-757dup MANE Select NP_002599.1:n.-763_-757dup
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Search 100 bp 3'