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_000001.11:g.152565375_152565411delinsGTATTAATGTCCTCTCAGATTTTACAGGAAAAGTCAA , CM000663.2:g.152565375_152565411delinsGTATTAATGTCCTCTCAGATTTTACAGGAAAAGTCAA	GRCh38
NC_000001.10:g.152537851_152537887delinsGTATTAATGTCCTCTCAGATTTTACAGGAAAAGTCAA , CM000663.1:g.152537851_152537887delinsGTATTAATGTCCTCTCAGATTTTACAGGAAAAGTCAA	GRCh37
NC_000001.9:g.150804475_150804511delinsGTATTAATGTCCTCTCAGATTTTACAGGAAAAGTCAA	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000617545.1:c.45-35416_45-35380delinsGTATTAATGTCCTCTCAGATTTTACAGGAAAAGTCAA	ENSP00000482477.1:n.45-35416_45-35380deli...