Canonical Allele Identifier: CA891843716

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 568004
• ClinVar RCV Id: RCV000688236
• dbSNP Id: rs1567761950
• MyVariant Identifiers: chr17:g.48273988_48273995del (hg19) ; chr17:g.50196627_50196634del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50196627_50196634del , CM000679.2:g.50196627_50196634del	GRCh38
NC_000017.10:g.48273988_48273995del , CM000679.1:g.48273988_48273995del	GRCh37
NC_000017.9:g.45628987_45628994del	NCBI36
NG_007400.1:g.10006_10013del , LRG_1:g.10006_10013del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.841_848del MANE Select	ENSP00000225964.6:p.Gly281TrpfsTer3
ENST00000225964.9:c.841_848del	ENSP00000225964.5:p.Gly281TrpfsTer3
ENST00000495677.1:n.568_575del
NM_000088.3:c.841_848del , LRG_1t1:c.841_848del	NP_000079.2:p.Gly281TrpfsTer3
XM_005257058.3:c.841_848del	XP_005257115.2:p.Gly281TrpfsTer3
XM_005257059.3:c.841_848del	XP_005257116.2:p.Gly281TrpfsTer3
XM_011524341.1:c.841_848del	XP_011522643.1:p.Gly281TrpfsTer3
XM_005257058.4:c.841_848del	XP_005257115.2:p.Gly281TrpfsTer3
XM_005257059.4:c.841_848del	XP_005257116.2:p.Gly281TrpfsTer3
NM_000088.4:c.841_848del MANE Select	NP_000079.2:p.Gly281TrpfsTer3