Canonical Allele Identifier: CA1767750288

Gene: PDGFRL

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.17603936_17603937delinsTG , CM000670.2:g.17603936_17603937delinsTG	GRCh38
NC_000008.10:g.17461445_17461446delinsTG , CM000670.1:g.17461445_17461446delinsTG	GRCh37
NC_000008.9:g.17505722_17505723delinsTG	NCBI36
NG_023332.1:g.32504_32505delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251630.11:c.353+14171_353+14172delinsTG MANE Select	ENSP00000251630.4:n.353+14171_353+14172delinsTG
ENST00000673645.1:c.353+14171_353+14172delinsTG	ENSP00000501219.1:n.353+14171_353+14172delinsTG
ENST00000251630.10:c.353+14171_353+14172delinsTG	ENSP00000251630.4:n.353+14171_353+14172delinsTG
ENST00000541323.1:c.353+14171_353+14172delinsTG	ENSP00000444211.1:n.353+14171_353+14172delinsTG
NM_006207.2:c.353+14171_353+14172delinsTG	NP_006198.1:n.353+14171_353+14172delinsTG
XM_011544558.1:c.353+14171_353+14172delinsTG	XP_011542860.1:n.353+14171_353+14172delinsTG
NM_001372073.1:c.353+14171_353+14172delinsTG MANE Select	NP_001359002.1:n.353+14171_353+14172delinsTG