Canonical Allele Identifier: CA2573154257

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 1687556
• ClinVar RCV Id: RCV002251238
• dbSNP Id: rs2144563843

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50192675_50192679del , CM000679.2:g.50192675_50192679del	GRCh38
NC_000017.10:g.48270036_48270040del , CM000679.1:g.48270036_48270040del	GRCh37
NC_000017.9:g.45625035_45625039del	NCBI36
NG_007400.1:g.13962_13966del , LRG_1:g.13962_13966del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1891_1895del MANE Select	ENSP00000225964.6:p.Arg631Ter
ENST00000225964.9:c.1891_1895del	ENSP00000225964.5:p.Arg631Ter
ENST00000476387.1:n.240_244del
NM_000088.3:c.1891_1895del , LRG_1t1:c.1891_1895del	NP_000079.2:p.Arg631Ter
XM_005257058.3:c.1891_1895del	XP_005257115.2:p.Arg631Ter
XM_005257059.3:c.973_977del	XP_005257116.2:p.Arg325Ter
XM_011524341.1:c.1693_1697del	XP_011522643.1:p.Arg565Ter
XM_005257058.4:c.1891_1895del	XP_005257115.2:p.Arg631Ter
XM_005257059.4:c.973_977del	XP_005257116.2:p.Arg325Ter
NM_000088.4:c.1891_1895del MANE Select	NP_000079.2:p.Arg631Ter