Canonical Allele Identifier: CA2695226673

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 2688778
• ClinVar RCV Id: RCV003490559

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50195653del , CM000679.2:g.50195653del	GRCh38
NC_000017.10:g.48273014del , CM000679.1:g.48273014del	GRCh37
NC_000017.9:g.45628013del	NCBI36
NG_007400.1:g.10990del , LRG_1:g.10990del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1072del MANE Select	ENSP00000225964.6:p.Gln358LysfsTer?
ENST00000225964.9:c.1072del	ENSP00000225964.5:p.Gln358LysfsTer?
ENST00000471344.1:n.16del
NM_000088.3:c.1072del , LRG_1t1:c.1072del	NP_000079.2:p.Gln358LysfsTer?
XM_005257058.3:c.1072del	XP_005257115.2:p.Gln358LysfsTer?
XM_005257059.3:c.957+664del	XP_005257116.2:n.957+664del
XM_011524341.1:c.958-172del	XP_011522643.1:n.958-172del
XM_005257058.4:c.1072del	XP_005257115.2:p.Gln358LysfsTer?
XM_005257059.4:c.957+664del	XP_005257116.2:n.957+664del
NM_000088.4:c.1072del MANE Select	NP_000079.2:p.Gln358LysfsTer?