Canonical Allele Identifier: CA2580094160

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 1693558
• ClinVar RCV Id: RCV002260953
• dbSNP Id: rs1114167405

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185569del , CM000679.2:g.50185569del	GRCh38
NC_000017.10:g.48262930del , CM000679.1:g.48262930del	GRCh37
NC_000017.9:g.45617929del	NCBI36
NG_007400.1:g.21075del , LRG_1:g.21075del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.4332del MANE Select	ENSP00000225964.6:p.Leu1445TrpfsTer?
ENST00000225964.9:c.4332del	ENSP00000225964.5:p.Leu1445TrpfsTer?
NM_000088.3:c.4332del , LRG_1t1:c.4332del	NP_000079.2:p.Leu1445TrpfsTer?
XM_005257058.3:c.4062del	XP_005257115.2:p.Leu1355TrpfsTer?
XM_005257059.3:c.3414del	XP_005257116.2:p.Leu1139TrpfsTer?
XM_011524341.1:c.4134del	XP_011522643.1:p.Leu1379TrpfsTer?
XM_005257058.4:c.4062del	XP_005257115.2:p.Leu1355TrpfsTer?
XM_005257059.4:c.3414del	XP_005257116.2:p.Leu1139TrpfsTer?
NM_000088.4:c.4332del MANE Select	NP_000079.2:p.Leu1445TrpfsTer?