Canonical Allele Identifier: CA1140581053

Gene: PLOD1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11965571_11965573delinsGGG , CM000663.2:g.11965571_11965573delinsGGG	GRCh38
NC_000001.10:g.12025628_12025630delinsGGG , CM000663.1:g.12025628_12025630delinsGGG	GRCh37
NC_000001.9:g.11948215_11948217delinsGGG	NCBI36
NG_008159.1:g.35883_35885delinsGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000196061.5:c.1562_1564delinsGGG MANE Select	ENSP00000196061.4:p.Trp521=
ENST00000196061.4:c.1562_1564delinsGGG	ENSP00000196061.4:p.Trp521=
ENST00000470133.1:n.176_178delinsGGG
ENST00000491536.5:n.190_192delinsGGG
NM_000302.3:c.1562_1564delinsGGG	NP_000293.2:p.Trp521=
NM_001316320.1:c.1703_1705delinsGGG	NP_001303249.1:p.Trp568=
XM_011541594.1:c.1643_1645delinsGGG	XP_011539896.1:p.Trp548=
XM_024447707.1:c.896_898delinsGGG	XP_024303475.1:p.Trp299=
NM_000302.4:c.1562_1564delinsGGG MANE Select	NP_000293.2:p.Trp521=
NM_001316320.2:c.1703_1705delinsGGG	NP_001303249.1:p.Trp568=