Canonical Allele Identifier: CA2580612658

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 1069954
• ClinVar RCV Id: RCV001381952
• dbSNP Id: rs2144591295

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50199304_50199305del , CM000679.2:g.50199304_50199305del	GRCh38
NC_000017.10:g.48276665_48276666del , CM000679.1:g.48276665_48276666del	GRCh37
NC_000017.9:g.45631664_45631665del	NCBI36
NG_007400.1:g.7337_7338del , LRG_1:g.7337_7338del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.394_395del MANE Select	ENSP00000225964.6:p.Asp132TrpfsTer?
ENST00000225964.9:c.394_395del	ENSP00000225964.5:p.Asp132TrpfsTer?
ENST00000474644.1:n.615_616del
ENST00000507689.1:c.448_449del	ENSP00000460459.1:p.Asp150TrpfsTer?
NM_000088.3:c.394_395del , LRG_1t1:c.394_395del	NP_000079.2:p.Asp132TrpfsTer?
XM_005257058.3:c.394_395del	XP_005257115.2:p.Asp132TrpfsTer?
XM_005257059.3:c.394_395del	XP_005257116.2:p.Asp132TrpfsTer?
XM_011524341.1:c.394_395del	XP_011522643.1:p.Asp132TrpfsTer?
XM_005257058.4:c.394_395del	XP_005257115.2:p.Asp132TrpfsTer?
XM_005257059.4:c.394_395del	XP_005257116.2:p.Asp132TrpfsTer?
NM_000088.4:c.394_395del MANE Select	NP_000079.2:p.Asp132TrpfsTer?