Canonical Allele Identifier: CA2638704197

Gene: COL1A1

Linked Data

• gnomAD v4: 17-50185417-G-GTC

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185417_50185418insTC , CM000679.2:g.50185417_50185418insTC	GRCh38
NC_000017.10:g.48262778_48262779insTC , CM000679.1:g.48262778_48262779insTC	GRCh37
NC_000017.9:g.45617777_45617778insTC	NCBI36
NG_007400.1:g.21222_21223insGA , LRG_1:g.21222_21223insGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.*84_*85insGA MANE Select	ENSP00000225964.6:n.*84_*85insGA
ENST00000225964.9:c.*84_*85insGA	ENSP00000225964.5:n.*84_*85insGA
NM_000088.3:c.*84_*85insGA , LRG_1t1:c.*84_*85insGA	NP_000079.2:n.*84_*85insGA
XM_005257058.3:c.*84_*85insGA	XP_005257115.2:n.*84_*85insGA
XM_005257059.3:c.*84_*85insGA	XP_005257116.2:n.*84_*85insGA
XM_011524341.1:c.*84_*85insGA	XP_011522643.1:n.*84_*85insGA
XM_005257058.4:c.*84_*85insGA	XP_005257115.2:n.*84_*85insGA
XM_005257059.4:c.*84_*85insGA	XP_005257116.2:n.*84_*85insGA
NM_000088.4:c.*84_*85insGA MANE Select	NP_000079.2:n.*84_*85insGA