Canonical Allele Identifier: CA626486295

Gene: COL1A1

Linked Data

• dbSNP Id: rs1193829629
• gnomAD v2: 17-48276713-G-GGGT
• gnomAD v4: 17-50199352-G-GGGT
• MyVariant Identifiers: chr17:g.48276713_48276714insGGT (hg19) ; chr17:g.50199352_50199353insGGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50199354_50199356dup , CM000679.2:g.50199354_50199356dup	GRCh38
NC_000017.10:g.48276715_48276717dup , CM000679.1:g.48276715_48276717dup	GRCh37
NC_000017.9:g.45631714_45631716dup	NCBI36
NG_007400.1:g.7285_7287dup , LRG_1:g.7285_7287dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000225964.10:c.370-28_370-26dup MANE Select	ENSP00000225964.6:n.370-28_370-26dup
ENST00000225964.9:c.370-28_370-26dup	ENSP00000225964.5:n.370-28_370-26dup
ENST00000474644.1:n.591-28_591-26dup
ENST00000507689.1:c.424-28_424-26dup	ENSP00000460459.1:n.424-28_424-26dup
NM_000088.3:c.370-28_370-26dup , LRG_1t1:c.370-28_370-26dup	NP_000079.2:n.370-28_370-26dup
XM_005257058.3:c.370-28_370-26dup	XP_005257115.2:n.370-28_370-26dup
XM_005257059.3:c.370-28_370-26dup	XP_005257116.2:n.370-28_370-26dup
XM_011524341.1:c.370-28_370-26dup	XP_011522643.1:n.370-28_370-26dup
XM_005257058.4:c.370-28_370-26dup	XP_005257115.2:n.370-28_370-26dup
XM_005257059.4:c.370-28_370-26dup	XP_005257116.2:n.370-28_370-26dup
NM_000088.4:c.370-28_370-26dup MANE Select	NP_000079.2:n.370-28_370-26dup