Canonical Allele Identifier: CA538448990
Gene: COL3A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1644594
ClinVar RCV Id: RCV002140664
dbSNP Id: rs1246347975
gnomAD v2: 2-189871729-A-AT
gnomAD v4: 2-189007003-A-AT
MyVariant Identifiers: chr2:g.189871729_189871730insT (hg19) chr2:g.189007003_189007004insT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189007009dup , CM000664.2:g.189007009dup GRCh38
NC_000002.11:g.189871735dup , CM000664.1:g.189871735dup GRCh37
NC_000002.10:g.189579980dup NCBI36
NG_007404.1:g.37637dup , LRG_3:g.37637dup

Transcript Alleles

HGVS Amino-acid change
ENST00000450867.2:c.3156+19dup ENSP00000415346.2:n.3156+19dup
ENST00000304636.9:c.3255+19dup MANE Select ENSP00000304408.4:n.3255+19dup
ENST00000304636.7:c.3255+19dup ENSP00000304408.3:n.3255+19dup
ENST00000317840.9:c.2528-1045dup ENSP00000315243.6:n.2528-1045dup
NM_000090.3:c.3255+19dup , LRG_3t1:c.3255+19dup NP_000081.1:n.3255+19dup
NM_000090.4:c.3255+19dup MANE Select NP_000081.2:n.3255+19dup
Search 100 bp 5'
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