Canonical Allele Identifier: CA1767750450

Gene: PDGFRL

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.17604017_17604020delinsTAGG , CM000670.2:g.17604017_17604020delinsTAGG	GRCh38
NC_000008.10:g.17461526_17461529delinsTAGG , CM000670.1:g.17461526_17461529delinsTAGG	GRCh37
NC_000008.9:g.17505803_17505806delinsTAGG	NCBI36
NG_023332.1:g.32585_32588delinsTAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251630.11:c.353+14252_353+14255delinsTAGG MANE Select	ENSP00000251630.4:n.353+14252_353+14255delinsTAGG
ENST00000673645.1:c.353+14252_353+14255delinsTAGG	ENSP00000501219.1:n.353+14252_353+14255delinsTAGG
ENST00000251630.10:c.353+14252_353+14255delinsTAGG	ENSP00000251630.4:n.353+14252_353+14255delinsTAGG
ENST00000541323.1:c.353+14252_353+14255delinsTAGG	ENSP00000444211.1:n.353+14252_353+14255delinsTAGG
NM_006207.2:c.353+14252_353+14255delinsTAGG	NP_006198.1:n.353+14252_353+14255delinsTAGG
XM_011544558.1:c.353+14252_353+14255delinsTAGG	XP_011542860.1:n.353+14252_353+14255delinsTAGG
NM_001372073.1:c.353+14252_353+14255delinsTAGG MANE Select	NP_001359002.1:n.353+14252_353+14255delinsTAGG