Canonical Allele Identifier: CA2499224728

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 1299522
• ClinVar RCV Id: RCV001729994
• dbSNP Id: rs2144563732

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50192653del , CM000679.2:g.50192653del	GRCh38
NC_000017.10:g.48270014del , CM000679.1:g.48270014del	GRCh37
NC_000017.9:g.45625013del	NCBI36
NG_007400.1:g.13991del , LRG_1:g.13991del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1920del MANE Select	ENSP00000225964.6:p.Gly641AspfsTer?
ENST00000225964.9:c.1920del	ENSP00000225964.5:p.Gly641AspfsTer?
ENST00000476387.1:n.269del
NM_000088.3:c.1920del , LRG_1t1:c.1920del	NP_000079.2:p.Gly641AspfsTer?
XM_005257058.3:c.1920del	XP_005257115.2:p.Gly641AspfsTer?
XM_005257059.3:c.1002del	XP_005257116.2:p.Gly335AspfsTer?
XM_011524341.1:c.1722del	XP_011522643.1:p.Gly575AspfsTer?
XM_005257058.4:c.1920del	XP_005257115.2:p.Gly641AspfsTer?
XM_005257059.4:c.1002del	XP_005257116.2:p.Gly335AspfsTer?
NM_000088.4:c.1920del MANE Select	NP_000079.2:p.Gly641AspfsTer?