Canonical Allele Identifier: CA1315405300
Gene: COL3A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189008477_189008479delinsATT , CM000664.2:g.189008477_189008479delinsATT GRCh38
NC_000002.11:g.189873203_189873205delinsATT , CM000664.1:g.189873203_189873205delinsATT GRCh37
NC_000002.10:g.189581448_189581450delinsATT NCBI36
NG_007404.1:g.39105_39107delinsATT , LRG_3:g.39105_39107delinsATT

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.3426+335_3426+337delinsATT ENSP00000415346.2:n.3426+335_3426+337delinsATT
ENST00000304636.9:c.3525+335_3525+337delinsATT MANE Select ENSP00000304408.4:n.3525+335_3525+337delinsATT
ENST00000304636.7:c.3525+335_3525+337delinsATT ENSP00000304408.3:n.3525+335_3525+337delinsATT
ENST00000317840.9:c.2616+335_2616+337delinsATT ENSP00000315243.6:n.2616+335_2616+337delinsATT
ENST00000487010.1:n.176_178delinsATT
NM_000090.3:c.3525+335_3525+337delinsATT , LRG_3t1:c.3525+335_3525+337delinsATT NP_000081.1:n.3525+335_3525+337delinsATT
NM_000090.4:c.3525+335_3525+337delinsATT MANE Select NP_000081.2:n.3525+335_3525+337delinsATT