Canonical Allele Identifier: CA2507867924

Gene: COL3A1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189007527_189007528insAACTTTTAGATCCTGAACT , CM000664.2:g.189007527_189007528insAACTTTTAGATCCTGAACT	GRCh38
NC_000002.11:g.189872253_189872254insAACTTTTAGATCCTGAACT , CM000664.1:g.189872253_189872254insAACTTTTAGATCCTGAACT	GRCh37
NC_000002.10:g.189580498_189580499insAACTTTTAGATCCTGAACT	NCBI36
NG_007404.1:g.38155_38156insAACTTTTAGATCCTGAACT , LRG_3:g.38155_38156insAACTTTTAGATCCTGAACT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.3184_3185insAACTTTTAGATCCTGAACT	ENSP00000415346.2:p.Gly1062GlufsTer8
ENST00000304636.9:c.3283_3284insAACTTTTAGATCCTGAACT MANE Select	ENSP00000304408.4:p.Gly1095GlufsTer8
ENST00000304636.7:c.3283_3284insAACTTTTAGATCCTGAACT	ENSP00000304408.3:p.Gly1095GlufsTer8
ENST00000317840.9:c.2528-527_2528-526insAACTTTTAGATCCTGAACT	ENSP00000315243.6:n.2528-527_2528-526insAACTTTTAGATCCTGAACT
NM_000090.3:c.3283_3284insAACTTTTAGATCCTGAACT , LRG_3t1:c.3283_3284insAACTTTTAGATCCTGAACT	NP_000081.1:p.Gly1095GlufsTer8
NM_000090.4:c.3283_3284insAACTTTTAGATCCTGAACT MANE Select	NP_000081.2:p.Gly1095GlufsTer8