Canonical Allele Identifier: CA538448889
Gene: COL3A1 HGNC NCBI

Linked Data

dbSNP Id: rs1361055662
gnomAD v2: 2-189868923-AT-A
gnomAD v3: 2-189004197-AT-A
gnomAD v4: 2-189004197-AT-A
MyVariant Identifiers: chr2:g.189868924del (hg19) chr2:g.189004198del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189004198del , CM000664.2:g.189004198del GRCh38
NC_000002.11:g.189868924del , CM000664.1:g.189868924del GRCh37
NC_000002.10:g.189577169del NCBI36
NG_007404.1:g.34826del , LRG_3:g.34826del

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.2724+55del ENSP00000415346.2:n.2724+55del
ENST00000304636.9:c.2823+55del MANE Select ENSP00000304408.4:n.2823+55del
ENST00000304636.7:c.2823+55del ENSP00000304408.3:n.2823+55del
ENST00000317840.9:c.2527+1162del ENSP00000315243.6:n.2527+1162del
NM_000090.3:c.2823+55del , LRG_3t1:c.2823+55del NP_000081.1:n.2823+55del
NM_000090.4:c.2823+55del MANE Select NP_000081.2:n.2823+55del
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