Canonical Allele Identifier: CA260296

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 35912
• ClinVar RCV Id: RCV000029567 ; RCV000706566
• dbSNP Id: rs193922149
• gnomAD v4: 17-50190327-AG-A
• MyVariant Identifiers: chr17:g.48267689del (hg19) ; chr17:g.50190328del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50190333del , CM000679.2:g.50190333del	GRCh38
NC_000017.10:g.48267694del , CM000679.1:g.48267694del	GRCh37
NC_000017.9:g.45622693del	NCBI36
NG_007400.1:g.16312del , LRG_1:g.16312del

Transcript Alleles

HGVS	Amino-acid change
ENST00000225964.10:c.2450del MANE Select	ENSP00000225964.6:p.Pro817LeufsTer?
ENST00000225964.9:c.2450del	ENSP00000225964.5:p.Pro817LeufsTer?
ENST00000494334.1:n.377del
NM_000088.3:c.2450del , LRG_1t1:c.2450del	NP_000079.2:p.Pro817LeufsTer?
XM_005257058.3:c.2450del	XP_005257115.2:p.Pro817LeufsTer?
XM_005257059.3:c.1532del	XP_005257116.2:p.Pro511LeufsTer?
XM_011524341.1:c.2252del	XP_011522643.1:p.Pro751LeufsTer?
XM_005257058.4:c.2450del	XP_005257115.2:p.Pro817LeufsTer?
XM_005257059.4:c.1532del	XP_005257116.2:p.Pro511LeufsTer?
NM_000088.4:c.2450del MANE Select	NP_000079.2:p.Pro817LeufsTer?