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.

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.127343315_127343316delinsAG , CM000670.2:g.127343315_127343316delinsAG	GRCh38
NC_000008.10:g.128355561_128355562delinsAG , CM000670.1:g.128355561_128355562delinsAG	GRCh37
NC_000008.9:g.128424743_128424744delinsAG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645438.1:c.-560+3880_-560+3881delinsAG (POU5F1B)	ENSP00000495779.1:n.-560+3880_-560+3881delinsAG
NR_117099.1:n.457+3880_457+3881delinsAG (CASC21)
NR_117100.1:n.1177-53256_1177-53255delinsCT (CASC8)