Canonical Allele Identifier: CA915950618

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 691321
• ClinVar RCV Id: RCV000991249 ; RCV002226428
• dbSNP Id: rs150572711

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50196160del , CM000679.2:g.50196160del	GRCh38
NC_000017.10:g.48273521del , CM000679.1:g.48273521del	GRCh37
NC_000017.9:g.45628520del	NCBI36
NG_007400.1:g.10484del , LRG_1:g.10484del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1001del MANE Select	ENSP00000225964.6:p.Pro334LeufsTer?
ENST00000225964.9:c.1001del	ENSP00000225964.5:p.Pro334LeufsTer?
ENST00000485870.1:n.326del
NM_000088.3:c.1001del , LRG_1t1:c.1001del	NP_000079.2:p.Pro334LeufsTer?
XM_005257058.3:c.1001del	XP_005257115.2:p.Pro334LeufsTer?
XM_005257059.3:c.957+158del	XP_005257116.2:n.957+158del
XM_011524341.1:c.957+158del	XP_011522643.1:n.957+158del
XM_005257058.4:c.1001del	XP_005257115.2:p.Pro334LeufsTer?
XM_005257059.4:c.957+158del	XP_005257116.2:n.957+158del
NM_000088.4:c.1001del MANE Select	NP_000079.2:p.Pro334LeufsTer?