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

ENSP00000301067.7:p.Gln3612del

CA221983

ENST00000301067.12:c.10819C>T

CA221985

ENST00000301067.12:c.10834C>T

CA6546421

ENST00000301067.12:c.10827_10829del

CA6546423

ENST00000301067.12:c.10821_10823del

CA6546429

ENST00000301067.12:c.10806_10808del

CA6546432

ENST00000301067.12:c.10800_10802del

CA16616880

ENST00000301067.12:c.10810C>T

CA384725740

ENST00000301067.12:c.10831C>T

CA384725772

ENST00000301067.12:c.10828C>T

CA384725789

ENST00000301067.12:c.10825C>T

CA384725831

ENST00000301067.12:c.10822C>T

CA384725884

ENST00000301067.12:c.10816C>T

CA384725940

ENST00000301067.12:c.10813C>T

CA384726021

ENST00000301067.12:c.10807C>T

CA384726056

ENST00000301067.12:c.10804C>T

CA384726075

ENST00000301067.12:c.10801C>T

CA384726121

ENST00000301067.12:c.10798C>T

CA384726130

ENST00000301067.12:c.10795C>T

CA2618608205

ENST00000301067.12:c.10836_10838del