This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier: Get Identifier
Gene: COL1A1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_005257115.2:p.[Gly461_Pro462del;Gly464_Glu465delinsLeuLeu;Gly467Arg;Arg469_Gly473delinsGluSerGluGluLeu;Pro475_Gly476delinsValAsn;Thr478_Gly479delinsAspPro;Pro481_Gly482delinsAlaCys;Pro483_Pro484insAsp;Gly485_Pro490delinsLeuAlaSerValValAsp]
CA2695226654
XM_005257058.4:c.1380del