Canonical Allele Identifier: CA2697560409

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 2748687
• ClinVar RCV Id: RCV003516873

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50194745del , CM000679.2:g.50194745del	GRCh38
NC_000017.10:g.48272106del , CM000679.1:g.48272106del	GRCh37
NC_000017.9:g.45627105del	NCBI36
NG_007400.1:g.11896del , LRG_1:g.11896del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1438del MANE Select	ENSP00000225964.6:p.Leu480CysfsTer?
ENST00000225964.9:c.1438del	ENSP00000225964.5:p.Leu480CysfsTer?
ENST00000471344.1:n.382del
NM_000088.3:c.1438del , LRG_1t1:c.1438del	NP_000079.2:p.Leu480CysfsTer?
XM_005257058.3:c.1438del	XP_005257115.2:p.Leu480CysfsTer?
XM_005257059.3:c.957+1570del	XP_005257116.2:n.957+1570del
XM_011524341.1:c.1240del	XP_011522643.1:p.Leu414CysfsTer?
XM_005257058.4:c.1438del	XP_005257115.2:p.Leu480CysfsTer?
XM_005257059.4:c.957+1570del	XP_005257116.2:n.957+1570del
NM_000088.4:c.1438del MANE Select	NP_000079.2:p.Leu480CysfsTer?