Canonical Allele Identifier: CA10650528
Gene: COL1A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 324083
ClinVar RCV Id: RCV000307578 RCV000360001 RCV000407631
dbSNP Id: rs886053152
gnomAD v2: 17-48262604-G-GTT
gnomAD v3: 17-50185243-G-GTT
gnomAD v4: 17-50185243-G-GTT
MyVariant Identifiers: chr17:g.48262605_48262606dupTT (hg19) chr17:g.48262604_48262605insTT (hg19) chr17:g.50185244_50185245dupTT (hg38) chr17:g.50185243_50185244insTT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50185244_50185245dup , CM000679.2:g.50185244_50185245dup GRCh38
NC_000017.10:g.48262605_48262606dup , CM000679.1:g.48262605_48262606dup GRCh37
NC_000017.9:g.45617604_45617605dup NCBI36
NG_007400.1:g.21395_21396dup , LRG_1:g.21395_21396dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.*257_*258dup MANE Select ENSP00000225964.6:n.*257_*258dup
ENST00000225964.9:c.*257_*258dup ENSP00000225964.5:n.*257_*258dup
NM_000088.3:c.*257_*258dup , LRG_1t1:c.*257_*258dup NP_000079.2:n.*257_*258dup
XM_005257058.3:c.*257_*258dup XP_005257115.2:n.*257_*258dup
XM_005257059.3:c.*257_*258dup XP_005257116.2:n.*257_*258dup
XM_011524341.1:c.*257_*258dup XP_011522643.1:n.*257_*258dup
XM_005257058.4:c.*257_*258dup XP_005257115.2:n.*257_*258dup
XM_005257059.4:c.*257_*258dup XP_005257116.2:n.*257_*258dup
NM_000088.4:c.*257_*258dup MANE Select NP_000079.2:n.*257_*258dup
Search 100 bp 5'
Search 100 bp 3'