Canonical Allele Identifier: CA658798895

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 526843
• ClinVar RCV Id: RCV000631465
• dbSNP Id: rs1555573629
• MyVariant Identifiers: chr17:g.48271368del (hg19) ; chr17:g.50194007del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50194011del , CM000679.2:g.50194011del	GRCh38
NC_000017.10:g.48271372del , CM000679.1:g.48271372del	GRCh37
NC_000017.9:g.45626371del	NCBI36
NG_007400.1:g.12633del , LRG_1:g.12633del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1703del MANE Select	ENSP00000225964.6:p.Pro568GlnfsTer12
ENST00000225964.9:c.1703del	ENSP00000225964.5:p.Pro568GlnfsTer12
ENST00000463440.1:n.93del
ENST00000471344.1:n.735del
ENST00000476387.1:n.52del
NM_000088.3:c.1703del , LRG_1t1:c.1703del	NP_000079.2:p.Pro568GlnfsTer12
XM_005257058.3:c.1703del	XP_005257115.2:p.Pro568GlnfsTer12
XM_005257059.3:c.958-1314del	XP_005257116.2:n.958-1314del
XM_011524341.1:c.1505del	XP_011522643.1:p.Pro502GlnfsTer12
XM_005257058.4:c.1703del	XP_005257115.2:p.Pro568GlnfsTer12
XM_005257059.4:c.958-1314del	XP_005257116.2:n.958-1314del
NM_000088.4:c.1703del MANE Select	NP_000079.2:p.Pro568GlnfsTer12