Canonical Allele Identifier: CA2809757454

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50196604_50196605insGAGGCCC , CM000679.2:g.50196604_50196605insGAGGCCC	GRCh38
NC_000017.10:g.48273965_48273966insGAGGCCC , CM000679.1:g.48273965_48273966insGAGGCCC	GRCh37
NC_000017.9:g.45628964_45628965insGAGGCCC	NCBI36
NG_007400.1:g.10035_10036insGGGCCTC , LRG_1:g.10035_10036insGGGCCTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.858+12_858+13insGGGCCTC MANE Select	ENSP00000225964.6:n.858+12_858+13insGGGCCTC
ENST00000225964.9:c.858+12_858+13insGGGCCTC	ENSP00000225964.5:n.858+12_858+13insGGGCCTC
ENST00000495677.1:n.585+12_585+13insGGGCCTC
NM_000088.3:c.858+12_858+13insGGGCCTC , LRG_1t1:c.858+12_858+13insGGGCCTC	NP_000079.2:n.858+12_858+13insGGGCCTC
XM_005257058.3:c.858+12_858+13insGGGCCTC	XP_005257115.2:n.858+12_858+13insGGGCCTC
XM_005257059.3:c.858+12_858+13insGGGCCTC	XP_005257116.2:n.858+12_858+13insGGGCCTC
XM_011524341.1:c.858+12_858+13insGGGCCTC	XP_011522643.1:n.858+12_858+13insGGGCCTC
XM_005257058.4:c.858+12_858+13insGGGCCTC	XP_005257115.2:n.858+12_858+13insGGGCCTC
XM_005257059.4:c.858+12_858+13insGGGCCTC	XP_005257116.2:n.858+12_858+13insGGGCCTC
NM_000088.4:c.858+12_858+13insGGGCCTC MANE Select	NP_000079.2:n.858+12_858+13insGGGCCTC