Canonical Allele Identifier: CA2739292302

Gene: COL3A1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.188991681dup , CM000664.2:g.188991681dup	GRCh38
NC_000002.11:g.189856407dup , CM000664.1:g.189856407dup	GRCh37
NC_000002.10:g.189564652dup	NCBI36
NG_007404.1:g.22309dup , LRG_3:g.22309dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000450867.2:c.910dup	ENSP00000415346.2:p.Ala304GlyfsTer4
ENST00000304636.9:c.910dup MANE Select	ENSP00000304408.4:p.Ala304GlyfsTer4
ENST00000304636.7:c.910dup	ENSP00000304408.3:p.Ala304GlyfsTer4
ENST00000317840.9:c.910dup	ENSP00000315243.6:p.Ala304GlyfsTer4
ENST00000450867.1:c.8dup
NM_000090.3:c.910dup , LRG_3t1:c.910dup	NP_000081.1:p.Ala304GlyfsTer4
NM_000090.4:c.910dup MANE Select	NP_000081.2:p.Ala304GlyfsTer4