Canonical Allele Identifier: CA2656783643

Gene: PDGFB

Linked Data

• gnomAD v4: 22-39244813-TTTTTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.39244814_39244818del , CM000684.2:g.39244814_39244818del	GRCh38
NC_000022.10:g.39640819_39640823del , CM000684.1:g.39640819_39640823del	GRCh37
NC_000022.9:g.37970765_37970769del	NCBI36
NG_012111.1:g.5135_5139del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331163.11:c.-855_-851del MANE Select	ENSP00000330382.6:n.-855_-851del
NM_002608.2:c.-855_-851del	NP_002599.1:n.-855_-851del
NM_002608.3:c.-855_-851del	NP_002599.1:n.-855_-851del
NM_002608.4:c.-855_-851del MANE Select	NP_002599.1:n.-855_-851del