Canonical Allele Identifier: CA62556251
Gene: COL3A1 HGNC NCBI

Linked Data

dbSNP Id: rs772965226
gnomAD v3: 2-189002821-C-CA
gnomAD v4: 2-189002821-C-CA
MyVariant Identifiers: chr2:g.189867547_189867548insA (hg19) chr2:g.189002821_189002822insA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189002822dup , CM000664.2:g.189002822dup GRCh38
NC_000002.11:g.189867548dup , CM000664.1:g.189867548dup GRCh37
NC_000002.10:g.189575793dup NCBI36
NG_007404.1:g.33450dup , LRG_3:g.33450dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.2347-133dup ENSP00000415346.2:n.2347-133dup
ENST00000304636.9:c.2446-133dup MANE Select ENSP00000304408.4:n.2446-133dup
ENST00000304636.7:c.2446-133dup ENSP00000304408.3:n.2446-133dup
ENST00000317840.9:c.2446-133dup ENSP00000315243.6:n.2446-133dup
NM_000090.3:c.2446-133dup , LRG_3t1:c.2446-133dup NP_000081.1:n.2446-133dup
NM_000090.4:c.2446-133dup MANE Select NP_000081.2:n.2446-133dup
Search 100 bp 5'
Search 100 bp 3'