Canonical Allele Identifier: CA772786789

Gene: COL1A1

Linked Data

• dbSNP Id: rs1311228915
• gnomAD v4: 17-50190224-A-AC
• MyVariant Identifiers: chr17:g.48267585_48267586insC (hg19) ; chr17:g.50190224_50190225insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50190227dup , CM000679.2:g.50190227dup	GRCh38
NC_000017.10:g.48267588dup , CM000679.1:g.48267588dup	GRCh37
NC_000017.9:g.45622587dup	NCBI36
NG_007400.1:g.16415dup , LRG_1:g.16415dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.2451+102dup MANE Select	ENSP00000225964.6:n.2451+102dup
ENST00000225964.9:c.2451+102dup	ENSP00000225964.5:n.2451+102dup
NM_000088.3:c.2451+102dup , LRG_1t1:c.2451+102dup	NP_000079.2:n.2451+102dup
XM_005257058.3:c.2451+102dup	XP_005257115.2:n.2451+102dup
XM_005257059.3:c.1533+102dup	XP_005257116.2:n.1533+102dup
XM_011524341.1:c.2253+102dup	XP_011522643.1:n.2253+102dup
XM_005257058.4:c.2451+102dup	XP_005257115.2:n.2451+102dup
XM_005257059.4:c.1533+102dup	XP_005257116.2:n.1533+102dup
NM_000088.4:c.2451+102dup MANE Select	NP_000079.2:n.2451+102dup