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
ENSP00000225964.5:p.[Ser1417_Gly1420delinsMetAla;Trp1422_Lys1424delinsArgVal;Val1426_Ile1427delinsPro;Tyr1429_Leu1437del;Ile1439_Val1442delinsGly;Pro1444_Asp1446delinsArgGln]
CA2695226432
ENST00000225964.9:c.4238_4248dup