Canonical Allele Identifier: CA1153866404

Gene: PLOD1

Linked Data

• dbSNP Id: rs1645812266
• gnomAD v3: 1-11965668-TCA-T
• gnomAD v4: 1-11965668-TCA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11965669_11965670del , CM000663.2:g.11965669_11965670del	GRCh38
NC_000001.10:g.12025726_12025727del , CM000663.1:g.12025726_12025727del	GRCh37
NC_000001.9:g.11948313_11948314del	NCBI36
NG_008159.1:g.35981_35982del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000196061.5:c.1584+76_1584+77del MANE Select	ENSP00000196061.4:n.1584+76_1584+77del
ENST00000196061.4:c.1584+76_1584+77del	ENSP00000196061.4:n.1584+76_1584+77del
ENST00000470133.1:n.198+76_198+77del
ENST00000491536.5:n.212+76_212+77del
NM_000302.3:c.1584+76_1584+77del	NP_000293.2:n.1584+76_1584+77del
NM_001316320.1:c.1725+76_1725+77del	NP_001303249.1:n.1725+76_1725+77del
XM_011541594.1:c.1665+76_1665+77del	XP_011539896.1:n.1665+76_1665+77del
XM_024447707.1:c.918+76_918+77del	XP_024303475.1:n.918+76_918+77del
NM_000302.4:c.1584+76_1584+77del MANE Select	NP_000293.2:n.1584+76_1584+77del
NM_001316320.2:c.1725+76_1725+77del	NP_001303249.1:n.1725+76_1725+77del