Canonical Allele Identifier: CA2695226558

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50199306_50199307insT , CM000679.2:g.50199306_50199307insT	GRCh38
NC_000017.10:g.48276667_48276668insT , CM000679.1:g.48276667_48276668insT	GRCh37
NC_000017.9:g.45631666_45631667insT	NCBI36
NG_007400.1:g.7333_7334insA , LRG_1:g.7333_7334insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.390_391insA MANE Select	ENSP00000225964.6:p.Arg131ThrfsTer?
ENST00000225964.9:c.390_391insA	ENSP00000225964.5:p.Arg131ThrfsTer?
ENST00000474644.1:n.611_612insA
ENST00000507689.1:c.444_445insA	ENSP00000460459.1:p.Arg149ThrfsTer?
NM_000088.3:c.390_391insA , LRG_1t1:c.390_391insA	NP_000079.2:p.Arg131ThrfsTer?
XM_005257058.3:c.390_391insA	XP_005257115.2:p.Arg131ThrfsTer?
XM_005257059.3:c.390_391insA	XP_005257116.2:p.Arg131ThrfsTer?
XM_011524341.1:c.390_391insA	XP_011522643.1:p.Arg131ThrfsTer?
XM_005257058.4:c.390_391insA	XP_005257115.2:p.Arg131ThrfsTer?
XM_005257059.4:c.390_391insA	XP_005257116.2:p.Arg131ThrfsTer?
NM_000088.4:c.390_391insA MANE Select	NP_000079.2:p.Arg131ThrfsTer?