Canonical Allele Identifier: CA1767750572

Gene: PDGFRL

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.17604108_17604125delinsGTAATAGGAACACTTTTA , CM000670.2:g.17604108_17604125delinsGTAATAGGAACACTTTTA	GRCh38
NC_000008.10:g.17461617_17461634delinsGTAATAGGAACACTTTTA , CM000670.1:g.17461617_17461634delinsGTAATAGGAACACTTTTA	GRCh37
NC_000008.9:g.17505894_17505911delinsGTAATAGGAACACTTTTA	NCBI36
NG_023332.1:g.32676_32693delinsGTAATAGGAACACTTTTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251630.11:c.353+14343_353+14360delinsGTAATAGGAACACTTTTA MANE Select	ENSP00000251630.4:n.353+14343_353+14360delinsGTAATAGGAACACTTT...
ENST00000673645.1:c.353+14343_353+14360delinsGTAATAGGAACACTTTTA	ENSP00000501219.1:n.353+14343_353+14360delinsGTAATAGGAACACTTT...
ENST00000251630.10:c.353+14343_353+14360delinsGTAATAGGAACACTTTTA	ENSP00000251630.4:n.353+14343_353+14360delinsGTAATAGGAACACTTT...
ENST00000541323.1:c.353+14343_353+14360delinsGTAATAGGAACACTTTTA	ENSP00000444211.1:n.353+14343_353+14360delinsGTAATAGGAACACTTT...
NM_006207.2:c.353+14343_353+14360delinsGTAATAGGAACACTTTTA	NP_006198.1:n.353+14343_353+14360delinsGTAATAGGAACACTTTTA
XM_011544558.1:c.353+14343_353+14360delinsGTAATAGGAACACTTTTA	XP_011542860.1:n.353+14343_353+14360delinsGTAATAGGAACACTTTTA
NM_001372073.1:c.353+14343_353+14360delinsGTAATAGGAACACTTTTA MANE Select	NP_001359002.1:n.353+14343_353+14360delinsGTAATAGGAACACTTTTA