Canonical Allele Identifier: CA891843713

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 580852
• ClinVar RCV Id: RCV000704512
• dbSNP Id: rs1567760123
• MyVariant Identifiers: chr17:g.48272149del (hg19) ; chr17:g.50194788del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50194788del , CM000679.2:g.50194788del	GRCh38
NC_000017.10:g.48272149del , CM000679.1:g.48272149del	GRCh37
NC_000017.9:g.45627148del	NCBI36
NG_007400.1:g.11852del , LRG_1:g.11852del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1394del MANE Select	ENSP00000225964.6:p.Glu465GlyfsTer?
ENST00000225964.9:c.1394del	ENSP00000225964.5:p.Glu465GlyfsTer?
ENST00000471344.1:n.338del
NM_000088.3:c.1394del , LRG_1t1:c.1394del	NP_000079.2:p.Glu465GlyfsTer?
XM_005257058.3:c.1394del	XP_005257115.2:p.Glu465GlyfsTer?
XM_005257059.3:c.957+1526del	XP_005257116.2:n.957+1526del
XM_011524341.1:c.1196del	XP_011522643.1:p.Glu399GlyfsTer?
XM_005257058.4:c.1394del	XP_005257115.2:p.Glu465GlyfsTer?
XM_005257059.4:c.957+1526del	XP_005257116.2:n.957+1526del
NM_000088.4:c.1394del MANE Select	NP_000079.2:p.Glu465GlyfsTer?