Canonical Allele Identifier: CA2638709319

Gene: COL1A1

Linked Data

• gnomAD v4: 17-50192743-C-CTGAGGGTG

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50192745_50192752dup , CM000679.2:g.50192745_50192752dup	GRCh38
NC_000017.10:g.48270106_48270113dup , CM000679.1:g.48270106_48270113dup	GRCh37
NC_000017.9:g.45625105_45625112dup	NCBI36
NG_007400.1:g.13889_13896dup , LRG_1:g.13889_13896dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1875+46_1876-51dup MANE Select	ENSP00000225964.6:n.1875+46_1876-51dup
ENST00000225964.9:c.1875+46_1876-51dup	ENSP00000225964.5:n.1875+46_1876-51dup
ENST00000476387.1:n.224+46_225-51dup
NM_000088.3:c.1875+46_1876-51dup , LRG_1t1:c.1875+46_1876-51dup	NP_000079.2:n.1875+46_1876-51dup
XM_005257058.3:c.1875+46_1876-51dup	XP_005257115.2:n.1875+46_1876-51dup
XM_005257059.3:c.958-58_958-51dup	XP_005257116.2:n.958-58_958-51dup
XM_011524341.1:c.1677+46_1678-51dup	XP_011522643.1:n.1677+46_1678-51dup
XM_005257058.4:c.1875+46_1876-51dup	XP_005257115.2:n.1875+46_1876-51dup
XM_005257059.4:c.958-58_958-51dup	XP_005257116.2:n.958-58_958-51dup
NM_000088.4:c.1875+46_1876-51dup MANE Select	NP_000079.2:n.1875+46_1876-51dup