Canonical Allele Identifier: CA2716601297
Gene: PDGFRL HGNC NCBI

Linked Data

dbSNP Id: rs2129671734

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.17603758_17603759insTGAGATCAACTCCTTGGCTCAC , CM000670.2:g.17603758_17603759insTGAGATCAACTCCTTGGCTCAC GRCh38
NC_000008.10:g.17461267_17461268insTGAGATCAACTCCTTGGCTCAC , CM000670.1:g.17461267_17461268insTGAGATCAACTCCTTGGCTCAC GRCh37
NC_000008.9:g.17505544_17505545insTGAGATCAACTCCTTGGCTCAC NCBI36
NG_023332.1:g.32326_32327insTGAGATCAACTCCTTGGCTCAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000251630.11:c.353+13993_353+13994insTGAGATCAACTCCTTGGCTCAC MANE Select ENSP00000251630.4:n.353+13993_353+13994insTGAGATCAACTCCTTGGCT...
ENST00000673645.1:c.353+13993_353+13994insTGAGATCAACTCCTTGGCTCAC ENSP00000501219.1:n.353+13993_353+13994insTGAGATCAACTCCTTGGCT...
ENST00000251630.10:c.353+13993_353+13994insTGAGATCAACTCCTTGGCTCAC ENSP00000251630.4:n.353+13993_353+13994insTGAGATCAACTCCTTGGCT...
ENST00000541323.1:c.353+13993_353+13994insTGAGATCAACTCCTTGGCTCAC ENSP00000444211.1:n.353+13993_353+13994insTGAGATCAACTCCTTGGCT...
NM_006207.2:c.353+13993_353+13994insTGAGATCAACTCCTTGGCTCAC NP_006198.1:n.353+13993_353+13994insTGAGATCAACTCCTTGGCTCAC
XM_011544558.1:c.353+13993_353+13994insTGAGATCAACTCCTTGGCTCAC XP_011542860.1:n.353+13993_353+13994insTGAGATCAACTCCTTGGCTCAC...
NM_001372073.1:c.353+13993_353+13994insTGAGATCAACTCCTTGGCTCAC MANE Select NP_001359002.1:n.353+13993_353+13994insTGAGATCAACTCCTTGGCTCAC...