Canonical Allele Identifier: CA1315405257
Gene: COL3A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189008408_189008409delinsGT , CM000664.2:g.189008408_189008409delinsGT GRCh38
NC_000002.11:g.189873134_189873135delinsGT , CM000664.1:g.189873134_189873135delinsGT GRCh37
NC_000002.10:g.189581379_189581380delinsGT NCBI36
NG_007404.1:g.39036_39037delinsGT , LRG_3:g.39036_39037delinsGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.3426+266_3426+267delinsGT ENSP00000415346.2:n.3426+266_3426+267delinsGT
ENST00000304636.9:c.3525+266_3525+267delinsGT MANE Select ENSP00000304408.4:n.3525+266_3525+267delinsGT
ENST00000304636.7:c.3525+266_3525+267delinsGT ENSP00000304408.3:n.3525+266_3525+267delinsGT
ENST00000317840.9:c.2616+266_2616+267delinsGT ENSP00000315243.6:n.2616+266_2616+267delinsGT
ENST00000487010.1:n.107_108delinsGT
NM_000090.3:c.3525+266_3525+267delinsGT , LRG_3t1:c.3525+266_3525+267delinsGT NP_000081.1:n.3525+266_3525+267delinsGT
NM_000090.4:c.3525+266_3525+267delinsGT MANE Select NP_000081.2:n.3525+266_3525+267delinsGT