Canonical Allele Identifier: CA626486275

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 659812
• ClinVar RCV Id: RCV000991597 ; RCV000816871
• dbSNP Id: rs1473458290
• gnomAD v2: 17-48276616-CG-C
• gnomAD v4: 17-50199255-CG-C
• MyVariant Identifiers: chr17:g.48276617del (hg19) ; chr17:g.50199256del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50199261del , CM000679.2:g.50199261del	GRCh38
NC_000017.10:g.48276622del , CM000679.1:g.48276622del	GRCh37
NC_000017.9:g.45631621del	NCBI36
NG_007400.1:g.7384del , LRG_1:g.7384del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.441del MANE Select	ENSP00000225964.6:p.Gly148AspfsTer?
ENST00000225964.9:c.441del	ENSP00000225964.5:p.Gly148AspfsTer?
NM_000088.3:c.441del , LRG_1t1:c.441del	NP_000079.2:p.Gly148AspfsTer?
XM_005257058.3:c.441del	XP_005257115.2:p.Gly148AspfsTer?
XM_005257059.3:c.441del	XP_005257116.2:p.Gly148AspfsTer?
XM_011524341.1:c.441del	XP_011522643.1:p.Gly148AspfsTer?
XM_005257058.4:c.441del	XP_005257115.2:p.Gly148AspfsTer?
XM_005257059.4:c.441del	XP_005257116.2:p.Gly148AspfsTer?
NM_000088.4:c.441del MANE Select	NP_000079.2:p.Gly148AspfsTer?