Canonical Allele Identifier: CA772779866
Gene: COL1A1 HGNC NCBI

Linked Data

dbSNP Id: rs1428840575
gnomAD v3: 17-50185412-T-TG
gnomAD v4: 17-50185412-T-TG
MyVariant Identifiers: chr17:g.48262773_48262774insG (hg19) chr17:g.50185412_50185413insG (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50185413dup , CM000679.2:g.50185413dup GRCh38
NC_000017.10:g.48262774dup , CM000679.1:g.48262774dup GRCh37
NC_000017.9:g.45617773dup NCBI36
NG_007400.1:g.21227dup , LRG_1:g.21227dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.*89dup MANE Select ENSP00000225964.6:n.*89dup
ENST00000225964.9:c.*89dup ENSP00000225964.5:n.*89dup
NM_000088.3:c.*89dup , LRG_1t1:c.*89dup NP_000079.2:n.*89dup
XM_005257058.3:c.*89dup XP_005257115.2:n.*89dup
XM_005257059.3:c.*89dup XP_005257116.2:n.*89dup
XM_011524341.1:c.*89dup XP_011522643.1:n.*89dup
XM_005257058.4:c.*89dup XP_005257115.2:n.*89dup
XM_005257059.4:c.*89dup XP_005257116.2:n.*89dup
NM_000088.4:c.*89dup MANE Select NP_000079.2:n.*89dup
Search 100 bp 5'
Search 100 bp 3'