Canonical Allele Identifier: CA62589719
Gene: COL3A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1198283
ClinVar RCV Id: RCV001562381
dbSNP Id: rs996833144
gnomAD v2: 2-189854263-GA-G
gnomAD v3: 2-188989537-GA-G
gnomAD v4: 2-188989537-GA-G
MyVariant Identifiers: chr2:g.189854264del (hg19) chr2:g.188989538del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.188989546del , CM000664.2:g.188989546del GRCh38
NC_000002.11:g.189854272del , CM000664.1:g.189854272del GRCh37
NC_000002.10:g.189562517del NCBI36
NG_007404.1:g.20174del , LRG_3:g.20174del

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.690+97del ENSP00000415346.2:n.690+97del
ENST00000304636.9:c.690+97del MANE Select ENSP00000304408.4:n.690+97del
ENST00000304636.7:c.690+97del ENSP00000304408.3:n.690+97del
ENST00000317840.9:c.690+97del ENSP00000315243.6:n.690+97del
NM_000090.3:c.690+97del , LRG_3t1:c.690+97del NP_000081.1:n.690+97del
NM_000090.4:c.690+97del MANE Select NP_000081.2:n.690+97del
Search 100 bp 5'
Search 100 bp 3'