Canonical Allele Identifier: CA2662286477
Gene: COL3A1 HGNC NCBI

Linked Data

gnomAD v4: 2-188988561-TA-T
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.188988565del , CM000664.2:g.188988565del GRCh38
NC_000002.11:g.189853291del , CM000664.1:g.189853291del GRCh37
NC_000002.10:g.189561536del NCBI36
NG_007404.1:g.19193del , LRG_3:g.19193del

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.583-25del ENSP00000415346.2:n.583-25del
ENST00000304636.9:c.583-25del MANE Select ENSP00000304408.4:n.583-25del
ENST00000304636.7:c.583-25del ENSP00000304408.3:n.583-25del
ENST00000317840.9:c.583-25del ENSP00000315243.6:n.583-25del
NM_000090.3:c.583-25del , LRG_3t1:c.583-25del NP_000081.1:n.583-25del
NM_000090.4:c.583-25del MANE Select NP_000081.2:n.583-25del
Search 100 bp 5'
Search 100 bp 3'