Canonical Allele Identifier: CA2263920284

Gene: COL1A1

Linked Data

• dbSNP Id: rs1907790356

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50198458_50198460del , CM000679.2:g.50198458_50198460del	GRCh38
NC_000017.10:g.48275819_48275821del , CM000679.1:g.48275819_48275821del	GRCh37
NC_000017.9:g.45630818_45630820del	NCBI36
NG_007400.1:g.8180_8182del , LRG_1:g.8180_8182del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.516_518del MANE Select	ENSP00000225964.6:p.Gly173del
ENST00000225964.9:c.516_518del	ENSP00000225964.5:p.Gly173del
ENST00000495677.1:n.243_245del
NM_000088.3:c.516_518del , LRG_1t1:c.516_518del	NP_000079.2:p.Gly173del
XM_005257058.3:c.516_518del	XP_005257115.2:p.Gly173del
XM_005257059.3:c.516_518del	XP_005257116.2:p.Gly173del
XM_011524341.1:c.516_518del	XP_011522643.1:p.Gly173del
XM_005257058.4:c.516_518del	XP_005257115.2:p.Gly173del
XM_005257059.4:c.516_518del	XP_005257116.2:p.Gly173del
NM_000088.4:c.516_518del MANE Select	NP_000079.2:p.Gly173del