Canonical Allele Identifier: CA984452345

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 1738497
• ClinVar RCV Id: RCV002327708
• dbSNP Id: rs1906460104
• gnomAD v3: 17-50185843-CGTT-C
• gnomAD v4: 17-50185843-CGTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185845_50185847del , CM000679.2:g.50185845_50185847del	GRCh38
NC_000017.10:g.48263206_48263208del , CM000679.1:g.48263206_48263208del	GRCh37
NC_000017.9:g.45618205_45618207del	NCBI36
NG_007400.1:g.20794_20796del , LRG_1:g.20794_20796del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.4180_4182del MANE Select	ENSP00000225964.6:p.Asn1394del
ENST00000225964.9:c.4180_4182del	ENSP00000225964.5:p.Asn1394del
ENST00000510710.3:n.1145_1147del
NM_000088.3:c.4180_4182del , LRG_1t1:c.4180_4182del	NP_000079.2:p.Asn1394del
XM_005257058.3:c.3910_3912del	XP_005257115.2:p.Asn1304del
XM_005257059.3:c.3262_3264del	XP_005257116.2:p.Asn1088del
XM_011524341.1:c.3982_3984del	XP_011522643.1:p.Asn1328del
XM_005257058.4:c.3910_3912del	XP_005257115.2:p.Asn1304del
XM_005257059.4:c.3262_3264del	XP_005257116.2:p.Asn1088del
NM_000088.4:c.4180_4182del MANE Select	NP_000079.2:p.Asn1394del