Canonical Allele Identifier: CA1040411009
Gene: COL3A1 HGNC NCBI

Linked Data

dbSNP Id: rs1688497039
gnomAD v3: 2-189002827-GC-G
gnomAD v4: 2-189002827-GC-G
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189002829del , CM000664.2:g.189002829del GRCh38
NC_000002.11:g.189867555del , CM000664.1:g.189867555del GRCh37
NC_000002.10:g.189575800del NCBI36
NG_007404.1:g.33457del , LRG_3:g.33457del

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.2347-126del ENSP00000415346.2:n.2347-126del
ENST00000304636.9:c.2446-126del MANE Select ENSP00000304408.4:n.2446-126del
ENST00000304636.7:c.2446-126del ENSP00000304408.3:n.2446-126del
ENST00000317840.9:c.2446-126del ENSP00000315243.6:n.2446-126del
NM_000090.3:c.2446-126del , LRG_3t1:c.2446-126del NP_000081.1:n.2446-126del
NM_000090.4:c.2446-126del MANE Select NP_000081.2:n.2446-126del
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