Canonical Allele Identifier: CA2523684008
Gene: COL3A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189000815_189000816insC , CM000664.2:g.189000815_189000816insC GRCh38
NC_000002.11:g.189865541_189865542insC , CM000664.1:g.189865541_189865542insC GRCh37
NC_000002.10:g.189573786_189573787insC NCBI36
NG_007404.1:g.31443_31444insC , LRG_3:g.31443_31444insC

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.2185-582_2185-581insC ENSP00000415346.2:n.2185-582_2185-581insC
ENST00000304636.9:c.2284-582_2284-581insC MANE Select ENSP00000304408.4:n.2284-582_2284-581insC
ENST00000304636.7:c.2284-582_2284-581insC ENSP00000304408.3:n.2284-582_2284-581insC
ENST00000317840.9:c.2284-582_2284-581insC ENSP00000315243.6:n.2284-582_2284-581insC
NM_000090.3:c.2284-582_2284-581insC , LRG_3t1:c.2284-582_2284-581insC NP_000081.1:n.2284-582_2284-581insC
NM_000090.4:c.2284-582_2284-581insC MANE Select NP_000081.2:n.2284-582_2284-581insC