Canonical Allele Identifier: CA500852144

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 645037
• ClinVar RCV Id: RCV000799052
• dbSNP Id: rs1315804923
• gnomAD v2: 17-48276599-AGGGGGTCCGGGAGGTCCG-A
• gnomAD v3: 17-50199238-AGGGGGTCCGGGAGGTCCG-A
• gnomAD v4: 17-50199238-AGGGGGTCCGGGAGGTCCG-A
• MyVariant Identifiers: chr17:g.48276600_48276617del (hg19) ; chr17:g.50199239_50199256del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50199250_50199267del , CM000679.2:g.50199250_50199267del	GRCh38
NC_000017.10:g.48276611_48276628del , CM000679.1:g.48276611_48276628del	GRCh37
NC_000017.9:g.45631610_45631627del	NCBI36
NG_007400.1:g.7384_7401del , LRG_1:g.7384_7401del

Transcript Alleles

HGVS	Amino-acid change
ENST00000225964.10:c.441_458del MANE Select	ENSP00000225964.6:p.Gly148_Pro153del
ENST00000225964.9:c.441_458del	ENSP00000225964.5:p.Gly148_Pro153del
NM_000088.3:c.441_458del , LRG_1t1:c.441_458del	NP_000079.2:p.Gly148_Pro153del
XM_005257058.3:c.441_458del	XP_005257115.2:p.Gly148_Pro153del
XM_005257059.3:c.441_458del	XP_005257116.2:p.Gly148_Pro153del
XM_011524341.1:c.441_458del	XP_011522643.1:p.Gly148_Pro153del
XM_005257058.4:c.441_458del	XP_005257115.2:p.Gly148_Pro153del
XM_005257059.4:c.441_458del	XP_005257116.2:p.Gly148_Pro153del
NM_000088.4:c.441_458del MANE Select	NP_000079.2:p.Gly148_Pro153del