Canonical Allele Identifier: CA2832124533
Gene: COL3A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.188991983_188991984del , CM000664.2:g.188991983_188991984del GRCh38
NC_000002.11:g.189856709_189856710del , CM000664.1:g.189856709_189856710del GRCh37
NC_000002.10:g.189564954_189564955del NCBI36
NG_007404.1:g.22611_22612del , LRG_3:g.22611_22612del

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.952-201_952-200del ENSP00000415346.2:n.952-201_952-200del
ENST00000304636.9:c.952-201_952-200del MANE Select ENSP00000304408.4:n.952-201_952-200del
ENST00000304636.7:c.952-201_952-200del ENSP00000304408.3:n.952-201_952-200del
ENST00000317840.9:c.952-201_952-200del ENSP00000315243.6:n.952-201_952-200del
ENST00000450867.1:c.50-201_50-200del
NM_000090.3:c.952-201_952-200del , LRG_3t1:c.952-201_952-200del NP_000081.1:n.952-201_952-200del
NM_000090.4:c.952-201_952-200del MANE Select NP_000081.2:n.952-201_952-200del