Canonical Allele Identifier: CA915950619

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 803436
• ClinVar RCV Id: RCV000989949
• dbSNP Id: rs1598298292

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50196335del , CM000679.2:g.50196335del	GRCh38
NC_000017.10:g.48273696del , CM000679.1:g.48273696del	GRCh37
NC_000017.9:g.45628695del	NCBI36
NG_007400.1:g.10307del , LRG_1:g.10307del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.938del MANE Select	ENSP00000225964.6:p.Pro313LeufsTer?
ENST00000225964.9:c.938del	ENSP00000225964.5:p.Pro313LeufsTer?
ENST00000485870.1:n.263del
NM_000088.3:c.938del , LRG_1t1:c.938del	NP_000079.2:p.Pro313LeufsTer?
XM_005257058.3:c.938del	XP_005257115.2:p.Pro313LeufsTer?
XM_005257059.3:c.938del	XP_005257116.2:p.Pro313LeufsTer?
XM_011524341.1:c.938del	XP_011522643.1:p.Pro313LeufsTer?
XM_005257058.4:c.938del	XP_005257115.2:p.Pro313LeufsTer?
XM_005257059.4:c.938del	XP_005257116.2:p.Pro313LeufsTer?
NM_000088.4:c.938del MANE Select	NP_000079.2:p.Pro313LeufsTer?