Canonical Allele Identifier: CA2263920627

Gene: COL1A1

Linked Data

• dbSNP Id: rs1907854867

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50199302_50199310del , CM000679.2:g.50199302_50199310del	GRCh38
NC_000017.10:g.48276663_48276671del , CM000679.1:g.48276663_48276671del	GRCh37
NC_000017.9:g.45631662_45631670del	NCBI36
NG_007400.1:g.7334_7342del , LRG_1:g.7334_7342del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.391_399del MANE Select	ENSP00000225964.6:p.Arg131_Gly133del
ENST00000225964.9:c.391_399del	ENSP00000225964.5:p.Arg131_Gly133del
ENST00000474644.1:n.612_620del
ENST00000507689.1:c.445_453del	ENSP00000460459.1:p.Arg149_Gly151del
NM_000088.3:c.391_399del , LRG_1t1:c.391_399del	NP_000079.2:p.Arg131_Gly133del
XM_005257058.3:c.391_399del	XP_005257115.2:p.Arg131_Gly133del
XM_005257059.3:c.391_399del	XP_005257116.2:p.Arg131_Gly133del
XM_011524341.1:c.391_399del	XP_011522643.1:p.Arg131_Gly133del
XM_005257058.4:c.391_399del	XP_005257115.2:p.Arg131_Gly133del
XM_005257059.4:c.391_399del	XP_005257116.2:p.Arg131_Gly133del
NM_000088.4:c.391_399del MANE Select	NP_000079.2:p.Arg131_Gly133del