Canonical Allele Identifier: CA626486269

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 1514410
• ClinVar RCV Id: RCV002029284
• dbSNP Id: rs1333144999
• gnomAD v2: 17-48276602-G-GGGTCCGGGAGGTCCGGGA
• gnomAD v4: 17-50199241-G-GGGTCCGGGAGGTCCGGGA
• MyVariant Identifiers: chr17:g.48276611_48276612insGGTCCGGGAGGTCCGGGA (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50199258_50199259insAGGTCCGGGAGGTCCGGG , CM000679.2:g.50199258_50199259insAGGTCCGGGAGGTCCGGG	GRCh38
NC_000017.10:g.48276619_48276620insAGGTCCGGGAGGTCCGGG , CM000679.1:g.48276619_48276620insAGGTCCGGGAGGTCCGGG	GRCh37
NC_000017.9:g.45631618_45631619insAGGTCCGGGAGGTCCGGG	NCBI36
NG_007400.1:g.7398_7399insTCCCGGACCTCCCGGACC , LRG_1:g.7398_7399insTCCCGGACCTCCCGGACC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.455_456insTCCCGGACCTCCCGGACC MANE Select	ENSP00000225964.6:p.Pro152_Pro153insProGlyProProGlyPro
ENST00000225964.9:c.455_456insTCCCGGACCTCCCGGACC	ENSP00000225964.5:p.Pro152_Pro153insProGlyProProGlyPro
NM_000088.3:c.455_456insTCCCGGACCTCCCGGACC , LRG_1t1:c.455_456insTCCCGGACCTCCCGGACC	NP_000079.2:p.Pro152_Pro153insProGlyProProGlyPro
XM_005257058.3:c.455_456insTCCCGGACCTCCCGGACC	XP_005257115.2:p.Pro152_Pro153insProGlyProProGlyPro
XM_005257059.3:c.455_456insTCCCGGACCTCCCGGACC	XP_005257116.2:p.Pro152_Pro153insProGlyProProGlyPro
XM_011524341.1:c.455_456insTCCCGGACCTCCCGGACC	XP_011522643.1:p.Pro152_Pro153insProGlyProProGlyPro
XM_005257058.4:c.455_456insTCCCGGACCTCCCGGACC	XP_005257115.2:p.Pro152_Pro153insProGlyProProGlyPro
XM_005257059.4:c.455_456insTCCCGGACCTCCCGGACC	XP_005257116.2:p.Pro152_Pro153insProGlyProProGlyPro
NM_000088.4:c.455_456insTCCCGGACCTCCCGGACC MANE Select	NP_000079.2:p.Pro152_Pro153insProGlyProProGlyPro