Canonical Allele Identifier: CA2573055015

Gene: PDGFB

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.39225772_39225786del , CM000684.2:g.39225772_39225786del	GRCh38
NC_000022.10:g.39621777_39621791del , CM000684.1:g.39621777_39621791del	GRCh37
NC_000022.9:g.37951723_37951737del	NCBI36
NG_012111.1:g.24174_24188del

Transcript Alleles

HGVS	Amino-acid Change
NM_002608.4:c.670_684del MANE Select	NP_002599.1:p.Arg224_His228del
ENST00000331163.11:c.670_684del MANE Select	ENSP00000330382.6:p.Arg224_His228del
NM_002608.2:c.670_684del	NP_002599.1:p.Arg224_His228del
NM_002608.3:c.670_684del	NP_002599.1:p.Arg224_His228del
NM_033016.2:c.625_639del	NP_148937.1:p.Arg209_His213del
NM_033016.3:c.625_639del	NP_148937.1:p.Arg209_His213del
ENST00000331163.10:c.670_684del	ENSP00000330382.6:p.Arg224_His228del
ENST00000381551.8:c.625_639del	ENSP00000370963.4:p.Arg209_His213del