Canonical Allele Identifier: CA291548453
Gene: COL1A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1297450
ClinVar RCV Id: RCV001723235
dbSNP Id: rs5820805
gnomAD v2: 17-48276004-G-GC
gnomAD v3: 17-50198643-G-GC
gnomAD v4: 17-50198643-G-GC
MyVariant Identifiers: chr17:g.48276004_48276005insC (hg19) chr17:g.50198643_50198644insC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50198644dup , CM000679.2:g.50198644dup GRCh38
NC_000017.10:g.48276005dup , CM000679.1:g.48276005dup GRCh37
NC_000017.9:g.45631004dup NCBI36
NG_007400.1:g.7996dup , LRG_1:g.7996dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.472-140dup MANE Select ENSP00000225964.6:n.472-140dup
ENST00000225964.9:c.472-140dup ENSP00000225964.5:n.472-140dup
ENST00000495677.1:n.59dup
NM_000088.3:c.472-140dup , LRG_1t1:c.472-140dup NP_000079.2:n.472-140dup
XM_005257058.3:c.472-140dup XP_005257115.2:n.472-140dup
XM_005257059.3:c.472-140dup XP_005257116.2:n.472-140dup
XM_011524341.1:c.472-140dup XP_011522643.1:n.472-140dup
XM_005257058.4:c.472-140dup XP_005257115.2:n.472-140dup
XM_005257059.4:c.472-140dup XP_005257116.2:n.472-140dup
NM_000088.4:c.472-140dup MANE Select NP_000079.2:n.472-140dup
Search 100 bp 5'
Search 100 bp 3'