Canonical Allele Identifier: CA1767750622

Gene: PDGFRL

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.17604143_17604144delinsTA , CM000670.2:g.17604143_17604144delinsTA	GRCh38
NC_000008.10:g.17461652_17461653delinsTA , CM000670.1:g.17461652_17461653delinsTA	GRCh37
NC_000008.9:g.17505929_17505930delinsTA	NCBI36
NG_023332.1:g.32711_32712delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251630.11:c.353+14378_353+14379delinsTA MANE Select	ENSP00000251630.4:n.353+14378_353+14379delinsTA
ENST00000673645.1:c.353+14378_353+14379delinsTA	ENSP00000501219.1:n.353+14378_353+14379delinsTA
ENST00000251630.10:c.353+14378_353+14379delinsTA	ENSP00000251630.4:n.353+14378_353+14379delinsTA
ENST00000541323.1:c.353+14378_353+14379delinsTA	ENSP00000444211.1:n.353+14378_353+14379delinsTA
NM_006207.2:c.353+14378_353+14379delinsTA	NP_006198.1:n.353+14378_353+14379delinsTA
XM_011544558.1:c.353+14378_353+14379delinsTA	XP_011542860.1:n.353+14378_353+14379delinsTA
NM_001372073.1:c.353+14378_353+14379delinsTA MANE Select	NP_001359002.1:n.353+14378_353+14379delinsTA