Canonical Allele Identifier: CA913190216

Gene: COL3A1

Linked Data

• ClinVar Variation Id: 101405
• ClinVar RCV Id: RCV000087643

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189001289_189008107del , CM000664.2:g.189001289_189008107del	GRCh38
NC_000002.11:g.189866015_189872833del , CM000664.1:g.189866015_189872833del	GRCh37
NC_000002.10:g.189574260_189581078del	NCBI36
NG_007404.1:g.31917_38735del , LRG_3:g.31917_38735del

Transcript Alleles

HGVS	Amino-acid change
ENST00000450867.2:c.2185-108_3391del
ENST00000304636.9:c.2284-108_3490del
ENST00000304636.7:c.2284-108_3490del
ENST00000317840.9:c.2284-108_2581del
NM_000090.3:c.2284-108_3490del , LRG_3t1:c.2284-108_3490del
NM_000090.4:c.2284-108_3490del