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

ENSP00000439625.2:p.Glu760del

CA201473

ENST00000537245.6:c.2277_2279del

CA561243

ENST00000537245.6:c.2253_2255del

CA17234893

ENST00000537245.6:c.2271_2274delinsA

CA338118281

ENST00000537245.6:c.2278G>T

CA338118338

ENST00000537245.6:c.2275G>T

CA338118384

ENST00000537245.6:c.2272G>T

CA338118415

ENST00000537245.6:c.2269G>T

CA338118458

ENST00000537245.6:c.2266G>T

CA338118502

ENST00000537245.6:c.2263G>T

CA338118522

ENST00000537245.6:c.2260G>T

CA338118576

ENST00000537245.6:c.2257G>T

CA338118598

ENST00000537245.6:c.2254G>T

CA338118631

ENST00000537245.6:c.2251G>T

CA338118668

ENST00000537245.6:c.2248G>T

CA338118699

ENST00000537245.6:c.2245G>T

CA1151520207

ENST00000537245.6:c.2279_2281del

CA2642975260

ENST00000537245.6:c.2250_2252del