Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Amino-acid Alleles

HGVS (amino-acid)

Matching Registered Transcripts

ENSP00000395243.3:p.Glu701_Thr706del

CA176000

ENST00000454757.6:c.2102_2116delinsTTC

CA180803

ENST00000454757.6:c.2100_2116delinsAATTC

CA181002

ENST00000454757.6:c.2101_2117delinsAT

CA158932568

ENST00000454757.6:c.2101_2118del

CA645561489

ENST00000454757.6:c.2100_2117del

CA645561490

ENST00000454757.6:c.2100_2117delinsAAT

CA645561494

ENST00000454757.6:c.2101_2117delinsCA

CA645561498

ENST00000454757.6:c.2101_2118delinsATTCCT

CA645561502

ENST00000454757.6:c.2101_2116delinsT

CA645561507

ENST00000454757.6:c.2102_2118delinsTC

CA645561512

ENST00000454757.6:c.2102_2117delinsT

CA645561514

ENST00000454757.6:c.2102_2118delinsTTCCT

CA2714959368

ENST00000454757.6:c.2101_2118delinsATG