Canonical Allele Identifier: CA2656783576
Gene: PDGFB HGNC NCBI

Linked Data

gnomAD v4: 22-39244717-C-CCCTGT
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.39244718_39244719insCTGTC , CM000684.2:g.39244718_39244719insCTGTC GRCh38
NC_000022.10:g.39640723_39640724insCTGTC , CM000684.1:g.39640723_39640724insCTGTC GRCh37
NC_000022.9:g.37970669_37970670insCTGTC NCBI36
NG_012111.1:g.5235_5236insACAGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000331163.11:c.-755_-754insACAGG MANE Select ENSP00000330382.6:n.-755_-754insACAGG
ENST00000331163.10:c.-755_-754insACAGG ENSP00000330382.6:n.-755_-754insACAGG
NM_002608.2:c.-755_-754insACAGG NP_002599.1:n.-755_-754insACAGG
NM_002608.3:c.-755_-754insACAGG NP_002599.1:n.-755_-754insACAGG
NM_002608.4:c.-755_-754insACAGG MANE Select NP_002599.1:n.-755_-754insACAGG
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