Canonical Allele Identifier: CA2586965483

Gene: COL3A1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.188999376_188999387delinsCT , CM000664.2:g.188999376_188999387delinsCT	GRCh38
NC_000002.11:g.189864102_189864113delinsCT , CM000664.1:g.189864102_189864113delinsCT	GRCh37
NC_000002.10:g.189572347_189572358delinsCT	NCBI36
NG_007404.1:g.30004_30015delinsCT , LRG_3:g.30004_30015delinsCT

Transcript Alleles

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