Canonical Allele Identifier: CA400219435

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 2768434
• ClinVar RCV Id: RCV003517763
• dbSNP Id: rs1298902871
• gnomAD v2: 17-48272909-C-CA
• gnomAD v3: 17-50195548-C-CA
• gnomAD v4: 17-50195548-C-CA
• MyVariant Identifiers: chr17:g.48272909_48272910insA (hg19) ; chr17:g.50195548_50195549insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50195548_50195549insA , CM000679.2:g.50195548_50195549insA	GRCh38
NC_000017.10:g.48272909_48272910insA , CM000679.1:g.48272909_48272910insA	GRCh37
NC_000017.9:g.45627908_45627909insA	NCBI36
NG_007400.1:g.11091_11092insT , LRG_1:g.11091_11092insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1155+18_1155+19insT MANE Select	ENSP00000225964.6:n.1155+18_1155+19insT
ENST00000225964.9:c.1155+18_1155+19insT	ENSP00000225964.5:n.1155+18_1155+19insT
ENST00000471344.1:n.99+18_99+19insT
NM_000088.3:c.1155+18_1155+19insT , LRG_1t1:c.1155+18_1155+19insT	NP_000079.2:n.1155+18_1155+19insT
XM_005257058.3:c.1155+18_1155+19insT	XP_005257115.2:n.1155+18_1155+19insT
XM_005257059.3:c.957+765_957+766insT	XP_005257116.2:n.957+765_957+766insT
XM_011524341.1:c.958-71_958-70insT	XP_011522643.1:n.958-71_958-70insT
XM_005257058.4:c.1155+18_1155+19insT	XP_005257115.2:n.1155+18_1155+19insT
XM_005257059.4:c.957+765_957+766insT	XP_005257116.2:n.957+765_957+766insT
NM_000088.4:c.1155+18_1155+19insT MANE Select	NP_000079.2:n.1155+18_1155+19insT