Canonical Allele Identifier: CA1315396673
Gene: COL3A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.188991566_188991567delinsAT , CM000664.2:g.188991566_188991567delinsAT GRCh38
NC_000002.11:g.189856292_189856293delinsAT , CM000664.1:g.189856292_189856293delinsAT GRCh37
NC_000002.10:g.189564537_189564538delinsAT NCBI36
NG_007404.1:g.22194_22195delinsAT , LRG_3:g.22194_22195delinsAT

Transcript Alleles

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