Canonical Allele Identifier: CA1315405277
Gene: COL3A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189008442_189008445delinsTACA , CM000664.2:g.189008442_189008445delinsTACA GRCh38
NC_000002.11:g.189873168_189873171delinsTACA , CM000664.1:g.189873168_189873171delinsTACA GRCh37
NC_000002.10:g.189581413_189581416delinsTACA NCBI36
NG_007404.1:g.39070_39073delinsTACA , LRG_3:g.39070_39073delinsTACA

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.3426+300_3426+303delinsTACA ENSP00000415346.2:n.3426+300_3426+303delinsTACA
ENST00000304636.9:c.3525+300_3525+303delinsTACA MANE Select ENSP00000304408.4:n.3525+300_3525+303delinsTACA
ENST00000304636.7:c.3525+300_3525+303delinsTACA ENSP00000304408.3:n.3525+300_3525+303delinsTACA
ENST00000317840.9:c.2616+300_2616+303delinsTACA ENSP00000315243.6:n.2616+300_2616+303delinsTACA
ENST00000487010.1:n.141_144delinsTACA
NM_000090.3:c.3525+300_3525+303delinsTACA , LRG_3t1:c.3525+300_3525+303delinsTACA NP_000081.1:n.3525+300_3525+303delinsTACA
NM_000090.4:c.3525+300_3525+303delinsTACA MANE Select NP_000081.2:n.3525+300_3525+303delinsTACA