Canonical Allele Identifier: CA2742485959

Gene: PLOD1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11965442_11965449del , CM000663.2:g.11965442_11965449del	GRCh38
NC_000001.10:g.12025499_12025506del , CM000663.1:g.12025499_12025506del	GRCh37
NC_000001.9:g.11948086_11948093del	NCBI36
NG_008159.1:g.35754_35761del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000196061.5:c.1471-38_1471-31del MANE Select	ENSP00000196061.4:n.1471-38_1471-31del
ENST00000196061.4:c.1471-38_1471-31del	ENSP00000196061.4:n.1471-38_1471-31del
ENST00000470133.1:n.85-38_85-31del
ENST00000491536.5:n.99-38_99-31del
NM_000302.3:c.1471-38_1471-31del	NP_000293.2:n.1471-38_1471-31del
NM_001316320.1:c.1612-38_1612-31del	NP_001303249.1:n.1612-38_1612-31del
XM_011541594.1:c.1552-38_1552-31del	XP_011539896.1:n.1552-38_1552-31del
XM_024447707.1:c.805-38_805-31del	XP_024303475.1:n.805-38_805-31del
NM_000302.4:c.1471-38_1471-31del MANE Select	NP_000293.2:n.1471-38_1471-31del
NM_001316320.2:c.1612-38_1612-31del	NP_001303249.1:n.1612-38_1612-31del