Canonical Allele Identifier: CA1315405332
Gene: COL3A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189008554_189008555delinsCT , CM000664.2:g.189008554_189008555delinsCT GRCh38
NC_000002.11:g.189873280_189873281delinsCT , CM000664.1:g.189873280_189873281delinsCT GRCh37
NC_000002.10:g.189581525_189581526delinsCT NCBI36
NG_007404.1:g.39182_39183delinsCT , LRG_3:g.39182_39183delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.3427-370_3427-369delinsCT ENSP00000415346.2:n.3427-370_3427-369delinsCT
ENST00000304636.9:c.3526-370_3526-369delinsCT MANE Select ENSP00000304408.4:n.3526-370_3526-369delinsCT
ENST00000304636.7:c.3526-370_3526-369delinsCT ENSP00000304408.3:n.3526-370_3526-369delinsCT
ENST00000317840.9:c.2617-370_2617-369delinsCT ENSP00000315243.6:n.2617-370_2617-369delinsCT
ENST00000487010.1:n.253_254delinsCT
NM_000090.3:c.3526-370_3526-369delinsCT , LRG_3t1:c.3526-370_3526-369delinsCT NP_000081.1:n.3526-370_3526-369delinsCT
NM_000090.4:c.3526-370_3526-369delinsCT MANE Select NP_000081.2:n.3526-370_3526-369delinsCT