Canonical Allele Identifier: CA075660
Gene: COL3A1 HGNC NCBI
gnomAD v2:
2:189849900 CTTGT / C
gnomAD v3:
2:188985174 CTTGT / C
gnomAD v4:
chr2-188985174-CTTGT-C
Joint Max Group AF 0.00001224 (NFE)
Genomes Max Group AF 0.00001173 (NFE)
Exomes Max Group AF 0.00001096 (NFE)
ClinVar RCV:
RCV003069484
ClinVar Variation:
2154830
dbSNP:
746057620
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.188985177_188985180del , CM000664.2:g.188985177_188985180del GRCh38
NC_000002.11:g.189849903_189849906del , CM000664.1:g.189849903_189849906del GRCh37
NC_000002.10:g.189558148_189558151del NCBI36
NG_007404.1:g.15805_15808del , LRG_3:g.15805_15808del

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.283-20_283-17del ENSP00000415346.2:n.283-20_283-17del
ENST00000304636.9:c.283-20_283-17del MANE Select ENSP00000304408.4:n.283-20_283-17del
ENST00000304636.7:c.283-20_283-17del ENSP00000304408.3:n.283-20_283-17del
ENST00000317840.9:c.283-20_283-17del ENSP00000315243.6:n.283-20_283-17del
ENST00000470167.1:n.593_596del
NM_000090.3:c.283-20_283-17del , LRG_3t1:c.283-20_283-17del NP_000081.1:n.283-20_283-17del
NM_000090.4:c.283-20_283-17del MANE Select NP_000081.2:n.283-20_283-17del
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