Canonical Allele Identifier: CA2742485963
Gene: PLOD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11965468_11965470del , CM000663.2:g.11965468_11965470del GRCh38
NC_000001.10:g.12025525_12025527del , CM000663.1:g.12025525_12025527del GRCh37
NC_000001.9:g.11948112_11948114del NCBI36
NG_008159.1:g.35780_35782del

Transcript Alleles

HGVS Amino-acid Change
ENST00000196061.5:c.1471-12_1471-10del MANE Select ENSP00000196061.4:n.1471-12_1471-10del
ENST00000196061.4:c.1471-12_1471-10del ENSP00000196061.4:n.1471-12_1471-10del
ENST00000470133.1:n.85-12_85-10del
ENST00000491536.5:n.99-12_99-10del
NM_000302.3:c.1471-12_1471-10del NP_000293.2:n.1471-12_1471-10del
NM_001316320.1:c.1612-12_1612-10del NP_001303249.1:n.1612-12_1612-10del
XM_011541594.1:c.1552-12_1552-10del XP_011539896.1:n.1552-12_1552-10del
XM_024447707.1:c.805-12_805-10del XP_024303475.1:n.805-12_805-10del
NM_000302.4:c.1471-12_1471-10del MANE Select NP_000293.2:n.1471-12_1471-10del
NM_001316320.2:c.1612-12_1612-10del NP_001303249.1:n.1612-12_1612-10del