Canonical Allele Identifier: CA1111381549

Gene: PDGFRL

Linked Data

• dbSNP Id: rs1804222061
• gnomAD v3: 8-17604017-TAGG-T
• gnomAD v4: 8-17604017-TAGG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.17604023_17604025del , CM000670.2:g.17604023_17604025del	GRCh38
NC_000008.10:g.17461532_17461534del , CM000670.1:g.17461532_17461534del	GRCh37
NC_000008.9:g.17505809_17505811del	NCBI36
NG_023332.1:g.32591_32593del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251630.11:c.353+14258_353+14260del MANE Select	ENSP00000251630.4:n.353+14258_353+14260del
ENST00000673645.1:c.353+14258_353+14260del	ENSP00000501219.1:n.353+14258_353+14260del
ENST00000251630.10:c.353+14258_353+14260del	ENSP00000251630.4:n.353+14258_353+14260del
ENST00000541323.1:c.353+14258_353+14260del	ENSP00000444211.1:n.353+14258_353+14260del
NM_006207.2:c.353+14258_353+14260del	NP_006198.1:n.353+14258_353+14260del
XM_011544558.1:c.353+14258_353+14260del	XP_011542860.1:n.353+14258_353+14260del
NM_001372073.1:c.353+14258_353+14260del MANE Select	NP_001359002.1:n.353+14258_353+14260del