Canonical Allele Identifier: CA645509527

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 439503
• ClinVar RCV Id: RCV000507362 ; RCV001389862
• dbSNP Id: rs1555573621
• MyVariant Identifiers: chr17:g.48271351del (hg19) ; chr17:g.50193990del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50193992del , CM000679.2:g.50193992del	GRCh38
NC_000017.10:g.48271353del , CM000679.1:g.48271353del	GRCh37
NC_000017.9:g.45626352del	NCBI36
NG_007400.1:g.12650del , LRG_1:g.12650del

Transcript Alleles

HGVS	Amino-acid change
ENST00000225964.10:c.1720del MANE Select	ENSP00000225964.6:p.Arg574ValfsTer6
ENST00000225964.9:c.1720del	ENSP00000225964.5:p.Arg574ValfsTer6
ENST00000463440.1:n.110del
ENST00000471344.1:n.752del
ENST00000476387.1:n.69del
NM_000088.3:c.1720del , LRG_1t1:c.1720del	NP_000079.2:p.Arg574ValfsTer6
XM_005257058.3:c.1720del	XP_005257115.2:p.Arg574ValfsTer6
XM_005257059.3:c.958-1297del	XP_005257116.2:n.958-1297del
XM_011524341.1:c.1522del	XP_011522643.1:p.Arg508ValfsTer6
XM_005257058.4:c.1720del	XP_005257115.2:p.Arg574ValfsTer6
XM_005257059.4:c.958-1297del	XP_005257116.2:n.958-1297del
NM_000088.4:c.1720del MANE Select	NP_000079.2:p.Arg574ValfsTer6