Canonical Allele Identifier: CA291544399

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 1710364
• ClinVar RCV Id: RCV002291371 ; RCV003517365
• dbSNP Id: rs72651621
• gnomAD v4: 17-50192805-CA-C
• MyVariant Identifiers: chr17:g.48270167del (hg19) ; chr17:g.50192806del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50192806del , CM000679.2:g.50192806del	GRCh38
NC_000017.10:g.48270167del , CM000679.1:g.48270167del	GRCh37
NC_000017.9:g.45625166del	NCBI36
NG_007400.1:g.13834del , LRG_1:g.13834del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1866del MANE Select	ENSP00000225964.6:p.Gly623AlafsTer?
ENST00000225964.9:c.1866del	ENSP00000225964.5:p.Gly623AlafsTer?
ENST00000476387.1:n.215del
NM_000088.3:c.1866del , LRG_1t1:c.1866del	NP_000079.2:p.Gly623AlafsTer?
XM_005257058.3:c.1866del	XP_005257115.2:p.Gly623AlafsTer?
XM_005257059.3:c.958-113del	XP_005257116.2:n.958-113del
XM_011524341.1:c.1668del	XP_011522643.1:p.Gly557AlafsTer?
XM_005257058.4:c.1866del	XP_005257115.2:p.Gly623AlafsTer?
XM_005257059.4:c.958-113del	XP_005257116.2:n.958-113del
NM_000088.4:c.1866del MANE Select	NP_000079.2:p.Gly623AlafsTer?