Canonical Allele Identifier: CA915942287
Gene: COL3A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 664891
ClinVar RCV Id: RCV000823072
dbSNP Id: rs1576468160
gnomAD v4: 2-188999325-TGGCAGG-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.188999329_188999334del , CM000664.2:g.188999329_188999334del GRCh38
NC_000002.11:g.189864055_189864060del , CM000664.1:g.189864055_189864060del GRCh37
NC_000002.10:g.189572300_189572305del NCBI36
NG_007404.1:g.29957_29962del , LRG_3:g.29957_29962del

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.1968_1973del ENSP00000415346.2:p.Gly657_Ala658del
ENST00000304636.9:c.2067_2072del MANE Select ENSP00000304408.4:p.Gly690_Ala691del
ENST00000304636.7:c.2067_2072del ENSP00000304408.3:p.Gly690_Ala691del
ENST00000317840.9:c.2067_2072del ENSP00000315243.6:p.Gly690_Ala691del
NM_000090.3:c.2067_2072del , LRG_3t1:c.2067_2072del NP_000081.1:p.Gly690_Ala691del
NM_000090.4:c.2067_2072del MANE Select NP_000081.2:p.Gly690_Ala691del
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