Canonical Allele Identifier: CA077848
Gene: COL3A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189002989del , CM000664.2:g.189002989del GRCh38
NC_000002.11:g.189867715del , CM000664.1:g.189867715del GRCh37
NC_000002.10:g.189575960del NCBI36
NG_007404.1:g.33617del , LRG_3:g.33617del

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.2381del ENSP00000415346.2:p.Arg794LysfsTer?
ENST00000304636.9:c.2480del MANE Select ENSP00000304408.4:p.Arg827LysfsTer?
ENST00000304636.7:c.2480del ENSP00000304408.3:p.Arg827LysfsTer?
ENST00000317840.9:c.2480del ENSP00000315243.6:p.Arg827LysfsTer?
NM_000090.3:c.2480del , LRG_3t1:c.2480del NP_000081.1:p.Arg827LysfsTer?
NM_000090.4:c.2480del MANE Select NP_000081.2:p.Arg827LysfsTer?