Canonical Allele Identifier: CA172982572

Gene: PDGFRL

Linked Data

• dbSNP Id: rs146560129
• MyVariant Identifiers: chr8:g.17461499_17461503del (hg19) ; chr8:g.17603990_17603994del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.17603990_17603994del , CM000670.2:g.17603990_17603994del	GRCh38
NC_000008.10:g.17461499_17461503del , CM000670.1:g.17461499_17461503del	GRCh37
NC_000008.9:g.17505776_17505780del	NCBI36
NG_023332.1:g.32558_32562del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251630.11:c.353+14225_353+14229del MANE Select	ENSP00000251630.4:n.353+14225_353+14229del
ENST00000673645.1:c.353+14225_353+14229del	ENSP00000501219.1:n.353+14225_353+14229del
ENST00000251630.10:c.353+14225_353+14229del	ENSP00000251630.4:n.353+14225_353+14229del
ENST00000541323.1:c.353+14225_353+14229del	ENSP00000444211.1:n.353+14225_353+14229del
NM_006207.2:c.353+14225_353+14229del	NP_006198.1:n.353+14225_353+14229del
XM_011544558.1:c.353+14225_353+14229del	XP_011542860.1:n.353+14225_353+14229del
NM_001372073.1:c.353+14225_353+14229del MANE Select	NP_001359002.1:n.353+14225_353+14229del