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

ENSP00000439625.1:p.Glu802del

CA201473

ENST00000537245.5:c.2403_2405del

CA561243

ENST00000537245.5:c.2379_2381del

CA17234893

ENST00000537245.5:c.2397_2400delinsA

CA338118281

ENST00000537245.5:c.2404G>T

CA338118338

ENST00000537245.5:c.2401G>T

CA338118384

ENST00000537245.5:c.2398G>T

CA338118415

ENST00000537245.5:c.2395G>T

CA338118458

ENST00000537245.5:c.2392G>T

CA338118502

ENST00000537245.5:c.2389G>T

CA338118522

ENST00000537245.5:c.2386G>T

CA338118576

ENST00000537245.5:c.2383G>T

CA338118598

ENST00000537245.5:c.2380G>T

CA338118631

ENST00000537245.5:c.2377G>T

CA338118668

ENST00000537245.5:c.2374G>T

CA338118699

ENST00000537245.5:c.2371G>T

CA1151520207

ENST00000537245.5:c.2405_2407del

CA2642975260

ENST00000537245.5:c.2376_2378del