Canonical Allele Identifier: CA2263920626

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50199297_50199306delinsTGCCATCTCG , CM000679.2:g.50199297_50199306delinsTGCCATCTCG	GRCh38
NC_000017.10:g.48276658_48276667delinsTGCCATCTCG , CM000679.1:g.48276658_48276667delinsTGCCATCTCG	GRCh37
NC_000017.9:g.45631657_45631666delinsTGCCATCTCG	NCBI36
NG_007400.1:g.7334_7343delinsCGAGATGGCA , LRG_1:g.7334_7343delinsCGAGATGGCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.391_400delinsCGAGATGGCA MANE Select	ENSP00000225964.6:p.Arg131=
ENST00000225964.9:c.391_400delinsCGAGATGGCA	ENSP00000225964.5:p.Arg131=
ENST00000474644.1:n.612_621delinsCGAGATGGCA
ENST00000507689.1:c.445_454delinsCGAGATGGCA	ENSP00000460459.1:p.Arg149=
NM_000088.3:c.391_400delinsCGAGATGGCA , LRG_1t1:c.391_400delinsCGAGATGGCA	NP_000079.2:p.Arg131=
XM_005257058.3:c.391_400delinsCGAGATGGCA	XP_005257115.2:p.Arg131=
XM_005257059.3:c.391_400delinsCGAGATGGCA	XP_005257116.2:p.Arg131=
XM_011524341.1:c.391_400delinsCGAGATGGCA	XP_011522643.1:p.Arg131=
XM_005257058.4:c.391_400delinsCGAGATGGCA	XP_005257115.2:p.Arg131=
XM_005257059.4:c.391_400delinsCGAGATGGCA	XP_005257116.2:p.Arg131=
NM_000088.4:c.391_400delinsCGAGATGGCA MANE Select	NP_000079.2:p.Arg131=