Canonical Allele Identifier: CA913190215

Gene: COL3A1

Linked Data

• ClinVar Variation Id: 101228
• ClinVar RCV Id: RCV000087465

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189000730_189007456del , CM000664.2:g.189000730_189007456del	GRCh38
NC_000002.11:g.189865456_189872182del , CM000664.1:g.189865456_189872182del	GRCh37
NC_000002.10:g.189573701_189580427del	NCBI36
NG_007404.1:g.31358_38084del , LRG_3:g.31358_38084del

Transcript Alleles

HGVS	Amino-acid change
ENST00000450867.2:c.2185-667_3157-44del
ENST00000304636.9:c.2284-667_3256-44del
ENST00000304636.7:c.2284-667_3256-44del
ENST00000317840.9:c.2284-667_2528-598del
NM_000090.3:c.2284-667_3256-44del , LRG_3t1:c.2284-667_3256-44del
NM_000090.4:c.2284-667_3256-44del