Canonical Allele Identifier: CA10650532
Gene: COL1A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 324088
ClinVar RCV Id: RCV000287776 RCV000303947 RCV000383398 RCV004549709
dbSNP Id: rs56302025
gnomAD v3: 17-50185257-C-CTT
gnomAD v4: 17-50185257-C-CTT
MyVariant Identifiers: chr17:g.48262619_48262620dupTT (hg19) chr17:g.48262618_48262619insTT (hg19) chr17:g.50185258_50185259dupTT (hg38) chr17:g.50185257_50185258insTT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50185275_50185276dup , CM000679.2:g.50185275_50185276dup GRCh38
NC_000017.10:g.48262636_48262637dup , CM000679.1:g.48262636_48262637dup GRCh37
NC_000017.9:g.45617635_45617636dup NCBI36
NG_007400.1:g.21381_21382dup , LRG_1:g.21381_21382dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.*243_*244dup MANE Select ENSP00000225964.6:n.*243_*244dup
ENST00000225964.9:c.*243_*244dup ENSP00000225964.5:n.*243_*244dup
NM_000088.3:c.*243_*244dup , LRG_1t1:c.*243_*244dup NP_000079.2:n.*243_*244dup
XM_005257058.3:c.*243_*244dup XP_005257115.2:n.*243_*244dup
XM_005257059.3:c.*243_*244dup XP_005257116.2:n.*243_*244dup
XM_011524341.1:c.*243_*244dup XP_011522643.1:n.*243_*244dup
XM_005257058.4:c.*243_*244dup XP_005257115.2:n.*243_*244dup
XM_005257059.4:c.*243_*244dup XP_005257116.2:n.*243_*244dup
NM_000088.4:c.*243_*244dup MANE Select NP_000079.2:n.*243_*244dup
Search 100 bp 5'
Search 100 bp 3'