Canonical Allele Identifier: CA626486180

Gene: COL1A1

Linked Data

• dbSNP Id: rs1295527302
• gnomAD v2: 17-48276075-A-AGAGGGCCGAGAGGAGGAGGCGGC
• gnomAD v3: 17-50198714-A-AGAGGGCCGAGAGGAGGAGGCGGC
• gnomAD v4: 17-50198714-A-AGAGGGCCGAGAGGAGGAGGCGGC
• MyVariant Identifiers: chr17:g.48276075_48276076insGAGGGCCGAGAGGAGGAGGCGGC (hg19) ; chr17:g.50198714_50198715insGAGGGCCGAGAGGAGGAGGCGGC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50198714_50198715insGAGGGCCGAGAGGAGGAGGCGGC , CM000679.2:g.50198714_50198715insGAGGGCCGAGAGGAGGAGGCGGC	GRCh38
NC_000017.10:g.48276075_48276076insGAGGGCCGAGAGGAGGAGGCGGC , CM000679.1:g.48276075_48276076insGAGGGCCGAGAGGAGGAGGCGGC	GRCh37
NC_000017.9:g.45631074_45631075insGAGGGCCGAGAGGAGGAGGCGGC	NCBI36
NG_007400.1:g.7925_7926insGCCGCCTCCTCCTCTCGGCCCTC , LRG_1:g.7925_7926insGCCGCCTCCTCCTCTCGGCCCTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.472-211_472-210insGCCGCCTCCTCCTCTCGGCCCTC MANE Select	ENSP00000225964.6:n.472-211_472-210insGCCGCCTCCTCCTCTCGGCCCTC...
ENST00000225964.9:c.472-211_472-210insGCCGCCTCCTCCTCTCGGCCCTC	ENSP00000225964.5:n.472-211_472-210insGCCGCCTCCTCCTCTCGGCCCTC...
NM_000088.3:c.472-211_472-210insGCCGCCTCCTCCTCTCGGCCCTC , LRG_1t1:c.472-211_472-210insGCCGCCTCCTCCTCTCGGCCCTC	NP_000079.2:n.472-211_472-210insGCCGCCTCCTCCTCTCGGCCCTC
XM_005257058.3:c.472-211_472-210insGCCGCCTCCTCCTCTCGGCCCTC	XP_005257115.2:n.472-211_472-210insGCCGCCTCCTCCTCTCGGCCCTC
XM_005257059.3:c.472-211_472-210insGCCGCCTCCTCCTCTCGGCCCTC	XP_005257116.2:n.472-211_472-210insGCCGCCTCCTCCTCTCGGCCCTC
XM_011524341.1:c.472-211_472-210insGCCGCCTCCTCCTCTCGGCCCTC	XP_011522643.1:n.472-211_472-210insGCCGCCTCCTCCTCTCGGCCCTC
XM_005257058.4:c.472-211_472-210insGCCGCCTCCTCCTCTCGGCCCTC	XP_005257115.2:n.472-211_472-210insGCCGCCTCCTCCTCTCGGCCCTC
XM_005257059.4:c.472-211_472-210insGCCGCCTCCTCCTCTCGGCCCTC	XP_005257116.2:n.472-211_472-210insGCCGCCTCCTCCTCTCGGCCCTC
NM_000088.4:c.472-211_472-210insGCCGCCTCCTCCTCTCGGCCCTC MANE Select	NP_000079.2:n.472-211_472-210insGCCGCCTCCTCCTCTCGGCCCTC