Canonical Allele Identifier: CA913189729

Gene: COL3A1

Linked Data

• ClinVar Variation Id: 101275
• ClinVar RCV Id: RCV000087513

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189001505_189006012del , CM000664.2:g.189001505_189006012del	GRCh38
NC_000002.11:g.189866231_189870738del , CM000664.1:g.189866231_189870738del	GRCh37
NC_000002.10:g.189574476_189578983del	NCBI36
NG_007404.1:g.32133_36640del , LRG_3:g.32133_36640del

Transcript Alleles

HGVS	Amino-acid change
ENST00000450867.2:c.2239-31_2941-194del
ENST00000304636.9:c.2338-31_3040-194del
ENST00000304636.7:c.2338-31_3040-194del
ENST00000317840.9:c.2338-31_2528-2042del
NM_000090.3:c.2338-31_3040-194del , LRG_3t1:c.2338-31_3040-194del
NM_000090.4:c.2338-31_3040-194del