Canonical Allele Identifier: CA1767750484
Gene: PDGFRL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.17604035_17604036delinsTG , CM000670.2:g.17604035_17604036delinsTG GRCh38
NC_000008.10:g.17461544_17461545delinsTG , CM000670.1:g.17461544_17461545delinsTG GRCh37
NC_000008.9:g.17505821_17505822delinsTG NCBI36
NG_023332.1:g.32603_32604delinsTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000251630.11:c.353+14270_353+14271delinsTG MANE Select ENSP00000251630.4:n.353+14270_353+14271delinsTG
ENST00000673645.1:c.353+14270_353+14271delinsTG ENSP00000501219.1:n.353+14270_353+14271delinsTG
ENST00000251630.10:c.353+14270_353+14271delinsTG ENSP00000251630.4:n.353+14270_353+14271delinsTG
ENST00000541323.1:c.353+14270_353+14271delinsTG ENSP00000444211.1:n.353+14270_353+14271delinsTG
NM_006207.2:c.353+14270_353+14271delinsTG NP_006198.1:n.353+14270_353+14271delinsTG
XM_011544558.1:c.353+14270_353+14271delinsTG XP_011542860.1:n.353+14270_353+14271delinsTG
NM_001372073.1:c.353+14270_353+14271delinsTG MANE Select NP_001359002.1:n.353+14270_353+14271delinsTG