Canonical Allele Identifier: CA2697560405

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 2767323
• ClinVar RCV Id: RCV003517740

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50192645del , CM000679.2:g.50192645del	GRCh38
NC_000017.10:g.48270006del , CM000679.1:g.48270006del	GRCh37
NC_000017.9:g.45625005del	NCBI36
NG_007400.1:g.13996del , LRG_1:g.13996del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1925del MANE Select	ENSP00000225964.6:p.Phe642SerfsTer?
ENST00000225964.9:c.1925del	ENSP00000225964.5:p.Phe642SerfsTer?
ENST00000476387.1:n.274del
NM_000088.3:c.1925del , LRG_1t1:c.1925del	NP_000079.2:p.Phe642SerfsTer?
XM_005257058.3:c.1925del	XP_005257115.2:p.Phe642SerfsTer?
XM_005257059.3:c.1007del	XP_005257116.2:p.Phe336SerfsTer?
XM_011524341.1:c.1727del	XP_011522643.1:p.Phe576SerfsTer?
XM_005257058.4:c.1925del	XP_005257115.2:p.Phe642SerfsTer?
XM_005257059.4:c.1007del	XP_005257116.2:p.Phe336SerfsTer?
NM_000088.4:c.1925del MANE Select	NP_000079.2:p.Phe642SerfsTer?