Canonical Allele Identifier: CA2586965486
Gene: COL3A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.188990142del , CM000664.2:g.188990142del GRCh38
NC_000002.11:g.189854868del , CM000664.1:g.189854868del GRCh37
NC_000002.10:g.189563113del NCBI36
NG_007404.1:g.20770del , LRG_3:g.20770del

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.737del ENSP00000415346.2:p.Gly246AspfsTer17
ENST00000304636.9:c.737del MANE Select ENSP00000304408.4:p.Gly246AspfsTer17
ENST00000304636.7:c.737del ENSP00000304408.3:p.Gly246AspfsTer17
ENST00000317840.9:c.737del ENSP00000315243.6:p.Gly246AspfsTer17
NM_000090.3:c.737del , LRG_3t1:c.737del NP_000081.1:p.Gly246AspfsTer17
NM_000090.4:c.737del MANE Select NP_000081.2:p.Gly246AspfsTer17