Canonical Allele Identifier: CA998645033

Gene: PLOD1

Linked Data

• gnomAD v3: 1-11965412-TGCAGGGGAGGGGTGAGG-T
• gnomAD v4: 1-11965412-TGCAGGGGAGGGGTGAGG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11965427_11965443del , CM000663.2:g.11965427_11965443del	GRCh38
NC_000001.10:g.12025484_12025500del , CM000663.1:g.12025484_12025500del	GRCh37
NC_000001.9:g.11948071_11948087del	NCBI36
NG_008159.1:g.35739_35755del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000196061.5:c.1471-53_1471-37del MANE Select	ENSP00000196061.4:n.1471-53_1471-37del
ENST00000196061.4:c.1471-53_1471-37del	ENSP00000196061.4:n.1471-53_1471-37del
ENST00000470133.1:n.85-53_85-37del
ENST00000491536.5:n.99-53_99-37del
NM_000302.3:c.1471-53_1471-37del	NP_000293.2:n.1471-53_1471-37del
NM_001316320.1:c.1612-53_1612-37del	NP_001303249.1:n.1612-53_1612-37del
XM_011541594.1:c.1552-53_1552-37del	XP_011539896.1:n.1552-53_1552-37del
XM_024447707.1:c.805-53_805-37del	XP_024303475.1:n.805-53_805-37del
NM_000302.4:c.1471-53_1471-37del MANE Select	NP_000293.2:n.1471-53_1471-37del
NM_001316320.2:c.1612-53_1612-37del	NP_001303249.1:n.1612-53_1612-37del