Canonical Allele Identifier: CA291550439

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 1599239
• ClinVar RCV Id: RCV002115752
• dbSNP Id: rs35576965
• gnomAD v4: 17-50199332-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50199337del , CM000679.2:g.50199337del	GRCh38
NC_000017.10:g.48276698del , CM000679.1:g.48276698del	GRCh37
NC_000017.9:g.45631697del	NCBI36
NG_007400.1:g.7307del , LRG_1:g.7307del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.370-6del MANE Select	ENSP00000225964.6:n.370-6del
ENST00000225964.9:c.370-6del	ENSP00000225964.5:n.370-6del
ENST00000474644.1:n.591-6del
ENST00000507689.1:c.424-6del	ENSP00000460459.1:n.424-6del
NM_000088.3:c.370-6del , LRG_1t1:c.370-6del	NP_000079.2:n.370-6del
XM_005257058.3:c.370-6del	XP_005257115.2:n.370-6del
XM_005257059.3:c.370-6del	XP_005257116.2:n.370-6del
XM_011524341.1:c.370-6del	XP_011522643.1:n.370-6del
XM_005257058.4:c.370-6del	XP_005257115.2:n.370-6del
XM_005257059.4:c.370-6del	XP_005257116.2:n.370-6del
NM_000088.4:c.370-6del MANE Select	NP_000079.2:n.370-6del