Canonical Allele Identifier: CA2753584196
Gene: COL3A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189008659del , CM000664.2:g.189008659del GRCh38
NC_000002.11:g.189873385del , CM000664.1:g.189873385del GRCh37
NC_000002.10:g.189581630del NCBI36
NG_007404.1:g.39287del , LRG_3:g.39287del

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.3427-265del ENSP00000415346.2:n.3427-265del
ENST00000304636.9:c.3526-265del MANE Select ENSP00000304408.4:n.3526-265del
ENST00000304636.7:c.3526-265del ENSP00000304408.3:n.3526-265del
ENST00000317840.9:c.2617-265del ENSP00000315243.6:n.2617-265del
ENST00000487010.1:n.358del
NM_000090.3:c.3526-265del , LRG_3t1:c.3526-265del NP_000081.1:n.3526-265del
NM_000090.4:c.3526-265del MANE Select NP_000081.2:n.3526-265del