Canonical Allele Identifier: CA291546982

Gene: COL1A1

Linked Data

• dbSNP Id: rs374582077
• gnomAD v2: 17-48273216-G-GGGGAACA
• gnomAD v3: 17-50195855-G-GGGGAACA
• gnomAD v4: 17-50195855-G-GGGGAACA
• MyVariant Identifiers: chr17:g.48273216_48273217insGGGAACA (hg19) ; chr17:g.50195855_50195856insGGGAACA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50195860_50195866dup , CM000679.2:g.50195860_50195866dup	GRCh38
NC_000017.10:g.48273221_48273227dup , CM000679.1:g.48273221_48273227dup	GRCh37
NC_000017.9:g.45628220_45628226dup	NCBI36
NG_007400.1:g.10778_10784dup , LRG_1:g.10778_10784dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000225964.10:c.1056+61_1056+67dup MANE Select	ENSP00000225964.6:n.1056+61_1056+67dup
ENST00000225964.9:c.1056+61_1056+67dup	ENSP00000225964.5:n.1056+61_1056+67dup
NM_000088.3:c.1056+61_1056+67dup , LRG_1t1:c.1056+61_1056+67dup	NP_000079.2:n.1056+61_1056+67dup
XM_005257058.3:c.1056+61_1056+67dup	XP_005257115.2:n.1056+61_1056+67dup
XM_005257059.3:c.957+452_957+458dup	XP_005257116.2:n.957+452_957+458dup
XM_011524341.1:c.958-384_958-378dup	XP_011522643.1:n.958-384_958-378dup
XM_005257058.4:c.1056+61_1056+67dup	XP_005257115.2:n.1056+61_1056+67dup
XM_005257059.4:c.957+452_957+458dup	XP_005257116.2:n.957+452_957+458dup
NM_000088.4:c.1056+61_1056+67dup MANE Select	NP_000079.2:n.1056+61_1056+67dup