Canonical Allele Identifier: CA281702
Gene: COL3A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 17207
ClinVar RCV Id: RCV000018747

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.188989409_188996315del , CM000664.2:g.188989409_188996315del GRCh38
NC_000002.11:g.189854135_189861041del , CM000664.1:g.189854135_189861041del GRCh37
NC_000002.10:g.189562380_189569286del NCBI36
NG_007404.1:g.20037_26943del , LRG_3:g.20037_26943del

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.650_1564-83del
ENST00000304636.9:c.650_1663-83del
ENST00000304636.7:c.650_1663-83del
ENST00000317840.9:c.650_1663-83del
NM_000090.3:c.650_1663-83del , LRG_3t1:c.650_1663-83del
NM_000090.4:c.650_1663-83del