Canonical Allele Identifier: CA2573154188

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 1415249
• ClinVar RCV Id: RCV001932988
• dbSNP Id: rs2144573246

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50194777_50194789del , CM000679.2:g.50194777_50194789del	GRCh38
NC_000017.10:g.48272138_48272150del , CM000679.1:g.48272138_48272150del	GRCh37
NC_000017.9:g.45627137_45627149del	NCBI36
NG_007400.1:g.11856_11868del , LRG_1:g.11856_11868del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1398_1410del MANE Select	ENSP00000225964.6:p.Gly467LeufsTer?
ENST00000225964.9:c.1398_1410del	ENSP00000225964.5:p.Gly467LeufsTer?
ENST00000471344.1:n.342_354del
NM_000088.3:c.1398_1410del , LRG_1t1:c.1398_1410del	NP_000079.2:p.Gly467LeufsTer?
XM_005257058.3:c.1398_1410del	XP_005257115.2:p.Gly467LeufsTer?
XM_005257059.3:c.957+1530_957+1542del	XP_005257116.2:n.957+1530_957+1542del
XM_011524341.1:c.1200_1212del	XP_011522643.1:p.Gly401LeufsTer?
XM_005257058.4:c.1398_1410del	XP_005257115.2:p.Gly467LeufsTer?
XM_005257059.4:c.957+1530_957+1542del	XP_005257116.2:n.957+1530_957+1542del
NM_000088.4:c.1398_1410del MANE Select	NP_000079.2:p.Gly467LeufsTer?