Canonical Allele Identifier: CA915950609

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 804565
• ClinVar RCV Id: RCV000991593
• dbSNP Id: rs1598293710

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50192685del , CM000679.2:g.50192685del	GRCh38
NC_000017.10:g.48270046del , CM000679.1:g.48270046del	GRCh37
NC_000017.9:g.45625045del	NCBI36
NG_007400.1:g.13955del , LRG_1:g.13955del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1884del MANE Select	ENSP00000225964.6:p.Gly629AlafsTer?
ENST00000225964.9:c.1884del	ENSP00000225964.5:p.Gly629AlafsTer?
ENST00000476387.1:n.233del
NM_000088.3:c.1884del , LRG_1t1:c.1884del	NP_000079.2:p.Gly629AlafsTer?
XM_005257058.3:c.1884del	XP_005257115.2:p.Gly629AlafsTer?
XM_005257059.3:c.966del	XP_005257116.2:p.Gly323AlafsTer?
XM_011524341.1:c.1686del	XP_011522643.1:p.Gly563AlafsTer?
XM_005257058.4:c.1884del	XP_005257115.2:p.Gly629AlafsTer?
XM_005257059.4:c.966del	XP_005257116.2:p.Gly323AlafsTer?
NM_000088.4:c.1884del MANE Select	NP_000079.2:p.Gly629AlafsTer?