Canonical Allele Identifier: CA2576317756

Gene: COL1A1

Linked Data

• gnomAD v4: 17-50199241-G-GGGTCCGGGA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50199250_50199258dup , CM000679.2:g.50199250_50199258dup	GRCh38
NC_000017.10:g.48276611_48276619dup , CM000679.1:g.48276611_48276619dup	GRCh37
NC_000017.9:g.45631610_45631618dup	NCBI36
NG_007400.1:g.7390_7398dup , LRG_1:g.7390_7398dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.447_455dup MANE Select	ENSP00000225964.6:p.Pro152_Pro153insProGlyPro
ENST00000225964.9:c.447_455dup	ENSP00000225964.5:p.Pro152_Pro153insProGlyPro
NM_000088.3:c.447_455dup , LRG_1t1:c.447_455dup	NP_000079.2:p.Pro152_Pro153insProGlyPro
XM_005257058.3:c.447_455dup	XP_005257115.2:p.Pro152_Pro153insProGlyPro
XM_005257059.3:c.447_455dup	XP_005257116.2:p.Pro152_Pro153insProGlyPro
XM_011524341.1:c.447_455dup	XP_011522643.1:p.Pro152_Pro153insProGlyPro
XM_005257058.4:c.447_455dup	XP_005257115.2:p.Pro152_Pro153insProGlyPro
XM_005257059.4:c.447_455dup	XP_005257116.2:p.Pro152_Pro153insProGlyPro
NM_000088.4:c.447_455dup MANE Select	NP_000079.2:p.Pro152_Pro153insProGlyPro