Canonical Allele Identifier: CA2695226654

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 2884074
• ClinVar RCV Id: RCV003632438

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50194802del , CM000679.2:g.50194802del	GRCh38
NC_000017.10:g.48272163del , CM000679.1:g.48272163del	GRCh37
NC_000017.9:g.45627162del	NCBI36
NG_007400.1:g.11838del , LRG_1:g.11838del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1380del MANE Select	ENSP00000225964.6:p.Gly461AlafsTer?
ENST00000225964.9:c.1380del	ENSP00000225964.5:p.Gly461AlafsTer?
ENST00000471344.1:n.324del
NM_000088.3:c.1380del , LRG_1t1:c.1380del	NP_000079.2:p.Gly461AlafsTer?
XM_005257058.3:c.1380del	XP_005257115.2:p.Gly461AlafsTer?
XM_005257059.3:c.957+1512del	XP_005257116.2:n.957+1512del
XM_011524341.1:c.1182del	XP_011522643.1:p.Gly395AlafsTer?
XM_005257058.4:c.1380del	XP_005257115.2:p.Gly461AlafsTer?
XM_005257059.4:c.957+1512del	XP_005257116.2:n.957+1512del
NM_000088.4:c.1380del MANE Select	NP_000079.2:p.Gly461AlafsTer?