Canonical Allele Identifier: CA2643331192

Gene: PLOD1

Linked Data

• gnomAD v4: 1-11965427-AGGGCAGGGGAGGGGTGG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11965431_11965447del , CM000663.2:g.11965431_11965447del	GRCh38
NC_000001.10:g.12025488_12025504del , CM000663.1:g.12025488_12025504del	GRCh37
NC_000001.9:g.11948075_11948091del	NCBI36
NG_008159.1:g.35743_35759del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000196061.5:c.1471-49_1471-33del MANE Select	ENSP00000196061.4:n.1471-49_1471-33del
ENST00000196061.4:c.1471-49_1471-33del	ENSP00000196061.4:n.1471-49_1471-33del
ENST00000470133.1:n.85-49_85-33del
ENST00000491536.5:n.99-49_99-33del
NM_000302.3:c.1471-49_1471-33del	NP_000293.2:n.1471-49_1471-33del
NM_001316320.1:c.1612-49_1612-33del	NP_001303249.1:n.1612-49_1612-33del
XM_011541594.1:c.1552-49_1552-33del	XP_011539896.1:n.1552-49_1552-33del
XM_024447707.1:c.805-49_805-33del	XP_024303475.1:n.805-49_805-33del
NM_000302.4:c.1471-49_1471-33del MANE Select	NP_000293.2:n.1471-49_1471-33del
NM_001316320.2:c.1612-49_1612-33del	NP_001303249.1:n.1612-49_1612-33del