Canonical Allele Identifier: CA077037
Gene: COL3A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.188991566_188991567del , CM000664.2:g.188991566_188991567del GRCh38
NC_000002.11:g.189856292_189856293del , CM000664.1:g.189856292_189856293del GRCh37
NC_000002.10:g.189564537_189564538del NCBI36
NG_007404.1:g.22194_22195del , LRG_3:g.22194_22195del

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.897+35_897+36del ENSP00000415346.2:n.897+35_897+36del
ENST00000304636.9:c.897+35_897+36del MANE Select ENSP00000304408.4:n.897+35_897+36del
ENST00000304636.7:c.897+35_897+36del ENSP00000304408.3:n.897+35_897+36del
ENST00000317840.9:c.897+35_897+36del ENSP00000315243.6:n.897+35_897+36del
NM_000090.3:c.897+35_897+36del , LRG_3t1:c.897+35_897+36del NP_000081.1:n.897+35_897+36del
NM_000090.4:c.897+35_897+36del MANE Select NP_000081.2:n.897+35_897+36del