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_000003.12:g.29167588_29167589insGTTTTTT , CM000665.2:g.29167588_29167589insGTTTTTT	GRCh38
NC_000003.11:g.29209079_29209080insGTTTTTT , CM000665.1:g.29209079_29209080insGTTTTTT	GRCh37
NC_000003.10:g.29184083_29184084insGTTTTTT	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000635992.1:c.409-15368_409-15367insGTTTTTT	ENSP00000489994.1:n.409-15368_409-15367insGTTTTTT
ENST00000636582.1:n.353-15368_353-15367insGTTTTTT
ENST00000636680.2:c.283-15368_283-15367insGTTTTTT	ENSP00000490271.2:n.283-15368_283-15367insGTTTTTT
ENST00000636900.1:n.239-15368_239-15367insGTTTTTT
ENST00000637842.1:c.149-15368_149-15367insGTTTTTT	ENSP00000489718.1:n.149-15368_149-15367insGTTTTTT