Canonical Allele Identifier: CA2499224729

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 1074183
• ClinVar RCV Id: RCV001387405
• dbSNP Id: rs2144565471

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50192994del , CM000679.2:g.50192994del	GRCh38
NC_000017.10:g.48270355del , CM000679.1:g.48270355del	GRCh37
NC_000017.9:g.45625354del	NCBI36
NG_007400.1:g.13646del , LRG_1:g.13646del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1821del MANE Select	ENSP00000225964.6:p.Gly608ValfsTer?
ENST00000225964.9:c.1821del	ENSP00000225964.5:p.Gly608ValfsTer?
ENST00000476387.1:n.170del
NM_000088.3:c.1821del , LRG_1t1:c.1821del	NP_000079.2:p.Gly608ValfsTer?
XM_005257058.3:c.1821del	XP_005257115.2:p.Gly608ValfsTer?
XM_005257059.3:c.958-301del	XP_005257116.2:n.958-301del
XM_011524341.1:c.1623del	XP_011522643.1:p.Gly542ValfsTer?
XM_005257058.4:c.1821del	XP_005257115.2:p.Gly608ValfsTer?
XM_005257059.4:c.958-301del	XP_005257116.2:n.958-301del
NM_000088.4:c.1821del MANE Select	NP_000079.2:p.Gly608ValfsTer?