Canonical Allele Identifier: CA1111381534

Gene: PDGFRL

Linked Data

• gnomAD v3: 8-17603984-T-TC
• gnomAD v4: 8-17603984-T-TC

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.17603984_17603985insC , CM000670.2:g.17603984_17603985insC	GRCh38
NC_000008.10:g.17461493_17461494insC , CM000670.1:g.17461493_17461494insC	GRCh37
NC_000008.9:g.17505770_17505771insC	NCBI36
NG_023332.1:g.32552_32553insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251630.11:c.353+14219_353+14220insC MANE Select	ENSP00000251630.4:n.353+14219_353+14220insC
ENST00000673645.1:c.353+14219_353+14220insC	ENSP00000501219.1:n.353+14219_353+14220insC
ENST00000251630.10:c.353+14219_353+14220insC	ENSP00000251630.4:n.353+14219_353+14220insC
ENST00000541323.1:c.353+14219_353+14220insC	ENSP00000444211.1:n.353+14219_353+14220insC
NM_006207.2:c.353+14219_353+14220insC	NP_006198.1:n.353+14219_353+14220insC
XM_011544558.1:c.353+14219_353+14220insC	XP_011542860.1:n.353+14219_353+14220insC
NM_001372073.1:c.353+14219_353+14220insC MANE Select	NP_001359002.1:n.353+14219_353+14220insC