Canonical Allele Identifier: CA2779240122

Gene: PDGFRL

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.17604001_17604002dup , CM000670.2:g.17604001_17604002dup	GRCh38
NC_000008.10:g.17461510_17461511dup , CM000670.1:g.17461510_17461511dup	GRCh37
NC_000008.9:g.17505787_17505788dup	NCBI36
NG_023332.1:g.32569_32570dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251630.11:c.353+14236_353+14237dup MANE Select	ENSP00000251630.4:n.353+14236_353+14237dup
ENST00000673645.1:c.353+14236_353+14237dup	ENSP00000501219.1:n.353+14236_353+14237dup
ENST00000251630.10:c.353+14236_353+14237dup	ENSP00000251630.4:n.353+14236_353+14237dup
ENST00000541323.1:c.353+14236_353+14237dup	ENSP00000444211.1:n.353+14236_353+14237dup
NM_006207.2:c.353+14236_353+14237dup	NP_006198.1:n.353+14236_353+14237dup
XM_011544558.1:c.353+14236_353+14237dup	XP_011542860.1:n.353+14236_353+14237dup
NM_001372073.1:c.353+14236_353+14237dup MANE Select	NP_001359002.1:n.353+14236_353+14237dup