Canonical Allele Identifier: CA580081086

Gene: PDGFRL

Linked Data

• dbSNP Id: rs1330406456
• gnomAD v2: 8-17461617-GTAATAGGAACACTTTTA-G
• gnomAD v3: 8-17604108-GTAATAGGAACACTTTTA-G
• gnomAD v4: 8-17604108-GTAATAGGAACACTTTTA-G
• MyVariant Identifiers: chr8:g.17461618_17461634del (hg19) ; chr8:g.17604109_17604125del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.17604109_17604125del , CM000670.2:g.17604109_17604125del	GRCh38
NC_000008.10:g.17461618_17461634del , CM000670.1:g.17461618_17461634del	GRCh37
NC_000008.9:g.17505895_17505911del	NCBI36
NG_023332.1:g.32677_32693del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251630.11:c.353+14344_353+14360del MANE Select	ENSP00000251630.4:n.353+14344_353+14360del
ENST00000673645.1:c.353+14344_353+14360del	ENSP00000501219.1:n.353+14344_353+14360del
ENST00000251630.10:c.353+14344_353+14360del	ENSP00000251630.4:n.353+14344_353+14360del
ENST00000541323.1:c.353+14344_353+14360del	ENSP00000444211.1:n.353+14344_353+14360del
NM_006207.2:c.353+14344_353+14360del	NP_006198.1:n.353+14344_353+14360del
XM_011544558.1:c.353+14344_353+14360del	XP_011542860.1:n.353+14344_353+14360del
NM_001372073.1:c.353+14344_353+14360del MANE Select	NP_001359002.1:n.353+14344_353+14360del