Canonical Allele Identifier: CA1767750123
Gene: PDGFRL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.17603827_17603831delinsGAGGA , CM000670.2:g.17603827_17603831delinsGAGGA GRCh38
NC_000008.10:g.17461336_17461340delinsGAGGA , CM000670.1:g.17461336_17461340delinsGAGGA GRCh37
NC_000008.9:g.17505613_17505617delinsGAGGA NCBI36
NG_023332.1:g.32395_32399delinsGAGGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000251630.11:c.353+14062_353+14066delinsGAGGA MANE Select ENSP00000251630.4:n.353+14062_353+14066delinsGAGGA
ENST00000673645.1:c.353+14062_353+14066delinsGAGGA ENSP00000501219.1:n.353+14062_353+14066delinsGAGGA
ENST00000251630.10:c.353+14062_353+14066delinsGAGGA ENSP00000251630.4:n.353+14062_353+14066delinsGAGGA
ENST00000541323.1:c.353+14062_353+14066delinsGAGGA ENSP00000444211.1:n.353+14062_353+14066delinsGAGGA
NM_006207.2:c.353+14062_353+14066delinsGAGGA NP_006198.1:n.353+14062_353+14066delinsGAGGA
XM_011544558.1:c.353+14062_353+14066delinsGAGGA XP_011542860.1:n.353+14062_353+14066delinsGAGGA
NM_001372073.1:c.353+14062_353+14066delinsGAGGA MANE Select NP_001359002.1:n.353+14062_353+14066delinsGAGGA