Canonical Allele Identifier: CA1315402564

Gene: COL3A1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189003062_189003063delinsTG , CM000664.2:g.189003062_189003063delinsTG	GRCh38
NC_000002.11:g.189867788_189867789delinsTG , CM000664.1:g.189867788_189867789delinsTG	GRCh37
NC_000002.10:g.189576033_189576034delinsTG	NCBI36
NG_007404.1:g.33690_33691delinsTG , LRG_3:g.33690_33691delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.2454_2454+1delinsTG
ENST00000304636.9:c.2553_2553+1delinsTG
ENST00000304636.7:c.2553_2553+1delinsTG
ENST00000317840.9:c.2527+26_2527+27delinsTG	ENSP00000315243.6:n.2527+26_2527+27delinsTG
NM_000090.3:c.2553_2553+1delinsTG , LRG_3t1:c.2553_2553+1delinsTG
NM_000090.4:c.2553_2553+1delinsTG