Canonical Allele Identifier: CA1767750007
Gene: PDGFRL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.17603751_17603760delinsACAATTAAAT , CM000670.2:g.17603751_17603760delinsACAATTAAAT GRCh38
NC_000008.10:g.17461260_17461269delinsACAATTAAAT , CM000670.1:g.17461260_17461269delinsACAATTAAAT GRCh37
NC_000008.9:g.17505537_17505546delinsACAATTAAAT NCBI36
NG_023332.1:g.32319_32328delinsACAATTAAAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000251630.11:c.353+13986_353+13995delinsACAATTAAAT MANE Select ENSP00000251630.4:n.353+13986_353+13995delinsACAATTAAAT
ENST00000673645.1:c.353+13986_353+13995delinsACAATTAAAT ENSP00000501219.1:n.353+13986_353+13995delinsACAATTAAAT
ENST00000251630.10:c.353+13986_353+13995delinsACAATTAAAT ENSP00000251630.4:n.353+13986_353+13995delinsACAATTAAAT
ENST00000541323.1:c.353+13986_353+13995delinsACAATTAAAT ENSP00000444211.1:n.353+13986_353+13995delinsACAATTAAAT
NM_006207.2:c.353+13986_353+13995delinsACAATTAAAT NP_006198.1:n.353+13986_353+13995delinsACAATTAAAT
XM_011544558.1:c.353+13986_353+13995delinsACAATTAAAT XP_011542860.1:n.353+13986_353+13995delinsACAATTAAAT
NM_001372073.1:c.353+13986_353+13995delinsACAATTAAAT MANE Select NP_001359002.1:n.353+13986_353+13995delinsACAATTAAAT