Canonical Allele Identifier: CA913190218

Gene: COL3A1

Linked Data

• ClinVar Variation Id: 101348
• ClinVar RCV Id: RCV000087586

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189006079_189007097del , CM000664.2:g.189006079_189007097del	GRCh38
NC_000002.11:g.189870805_189871823del , CM000664.1:g.189870805_189871823del	GRCh37
NC_000002.10:g.189579050_189580068del	NCBI36
NG_007404.1:g.36707_37725del , LRG_3:g.36707_37725del

Transcript Alleles

HGVS	Amino-acid change
ENST00000450867.2:c.2941-127_3156+107del
ENST00000304636.9:c.3040-127_3255+107del
ENST00000304636.7:c.3040-127_3255+107del
ENST00000317840.9:c.2528-1975_2528-957del	ENSP00000315243.6:n.2528-1975_2528-957del...
NM_000090.3:c.3040-127_3255+107del , LRG_3t1:c.3040-127_3255+107del
NM_000090.4:c.3040-127_3255+107del