Canonical Allele Identifier: CA2638703036
Gene: COL1A1 HGNC NCBI

Linked Data

dbSNP Id: rs2144526398
gnomAD v4: 17-50184964-T-TC
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50184969dup , CM000679.2:g.50184969dup GRCh38
NC_000017.10:g.48262330dup , CM000679.1:g.48262330dup GRCh37
NC_000017.9:g.45617329dup NCBI36
NG_007400.1:g.21675dup , LRG_1:g.21675dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.*537dup MANE Select ENSP00000225964.6:n.*537dup
ENST00000225964.9:c.*537dup ENSP00000225964.5:n.*537dup
NM_000088.3:c.*537dup , LRG_1t1:c.*537dup NP_000079.2:n.*537dup
XM_005257058.3:c.*537dup XP_005257115.2:n.*537dup
XM_005257059.3:c.*537dup XP_005257116.2:n.*537dup
XM_011524341.1:c.*537dup XP_011522643.1:n.*537dup
XM_005257058.4:c.*537dup XP_005257115.2:n.*537dup
XM_005257059.4:c.*537dup XP_005257116.2:n.*537dup
NM_000088.4:c.*537dup MANE Select NP_000079.2:n.*537dup
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