Canonical Allele Identifier: CA658798898

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 526840
• ClinVar RCV Id: RCV000631462
• dbSNP Id: rs1555573897
• MyVariant Identifiers: chr17:g.48272161del (hg19) ; chr17:g.50194800del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50194801del , CM000679.2:g.50194801del	GRCh38
NC_000017.10:g.48272162del , CM000679.1:g.48272162del	GRCh37
NC_000017.9:g.45627161del	NCBI36
NG_007400.1:g.11840del , LRG_1:g.11840del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1382del MANE Select	ENSP00000225964.6:p.Gly461AlafsTer?
ENST00000225964.9:c.1382del	ENSP00000225964.5:p.Gly461AlafsTer?
ENST00000471344.1:n.326del
NM_000088.3:c.1382del , LRG_1t1:c.1382del	NP_000079.2:p.Gly461AlafsTer?
XM_005257058.3:c.1382del	XP_005257115.2:p.Gly461AlafsTer?
XM_005257059.3:c.957+1514del	XP_005257116.2:n.957+1514del
XM_011524341.1:c.1184del	XP_011522643.1:p.Gly395AlafsTer?
XM_005257058.4:c.1382del	XP_005257115.2:p.Gly461AlafsTer?
XM_005257059.4:c.957+1514del	XP_005257116.2:n.957+1514del
NM_000088.4:c.1382del MANE Select	NP_000079.2:p.Gly461AlafsTer?