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

ENSP00000383706.3:p.Glu779del

CA201473

ENST00000400915.7:c.2334_2336del

CA561243

ENST00000400915.7:c.2310_2312del

CA17234893

ENST00000400915.7:c.2328_2331delinsA

CA338118281

ENST00000400915.7:c.2335G>T

CA338118338

ENST00000400915.7:c.2332G>T

CA338118384

ENST00000400915.7:c.2329G>T

CA338118415

ENST00000400915.7:c.2326G>T

CA338118458

ENST00000400915.7:c.2323G>T

CA338118502

ENST00000400915.7:c.2320G>T

CA338118522

ENST00000400915.7:c.2317G>T

CA338118576

ENST00000400915.7:c.2314G>T

CA338118598

ENST00000400915.7:c.2311G>T

CA338118631

ENST00000400915.7:c.2308G>T

CA338118668

ENST00000400915.7:c.2305G>T

CA338118699

ENST00000400915.7:c.2302G>T

CA1151520207

ENST00000400915.7:c.2336_2338del

CA2642975260

ENST00000400915.7:c.2307_2309del