Canonical Allele Identifier: CA2742485960
Gene: PLOD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11965456_11965457del , CM000663.2:g.11965456_11965457del GRCh38
NC_000001.10:g.12025513_12025514del , CM000663.1:g.12025513_12025514del GRCh37
NC_000001.9:g.11948100_11948101del NCBI36
NG_008159.1:g.35768_35769del

Transcript Alleles

HGVS Amino-acid Change
ENST00000196061.5:c.1471-24_1471-23del MANE Select ENSP00000196061.4:n.1471-24_1471-23del
ENST00000196061.4:c.1471-24_1471-23del ENSP00000196061.4:n.1471-24_1471-23del
ENST00000470133.1:n.85-24_85-23del
ENST00000491536.5:n.99-24_99-23del
NM_000302.3:c.1471-24_1471-23del NP_000293.2:n.1471-24_1471-23del
NM_001316320.1:c.1612-24_1612-23del NP_001303249.1:n.1612-24_1612-23del
XM_011541594.1:c.1552-24_1552-23del XP_011539896.1:n.1552-24_1552-23del
XM_024447707.1:c.805-24_805-23del XP_024303475.1:n.805-24_805-23del
NM_000302.4:c.1471-24_1471-23del MANE Select NP_000293.2:n.1471-24_1471-23del
NM_001316320.2:c.1612-24_1612-23del NP_001303249.1:n.1612-24_1612-23del