Canonical Allele Identifier: CA1139657564

Gene: COL3A1

Linked Data

• ClinVar Variation Id: 985097
• ClinVar RCV Id: RCV001265832
• dbSNP Id: rs1688402212

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.188999376_188999385del , CM000664.2:g.188999376_188999385del	GRCh38
NC_000002.11:g.189864102_189864111del , CM000664.1:g.189864102_189864111del	GRCh37
NC_000002.10:g.189572347_189572356del	NCBI36
NG_007404.1:g.30004_30013del , LRG_3:g.30004_30013del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.2015_2022+2del
ENST00000304636.9:c.2114_2121+2del
ENST00000304636.7:c.2114_2121+2del
ENST00000317840.9:c.2114_2121+2del
NM_000090.3:c.2114_2121+2del , LRG_3t1:c.2114_2121+2del
NM_000090.4:c.2114_2121+2del