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.29167525_29167528delinsACTT , CM000665.2:g.29167525_29167528delinsACTT	GRCh38
NC_000003.11:g.29209016_29209019delinsACTT , CM000665.1:g.29209016_29209019delinsACTT	GRCh37
NC_000003.10:g.29184020_29184023delinsACTT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000635992.1:c.409-15431_409-15428delinsACTT	ENSP00000489994.1:n.409-15431_409-15428delinsACTT
ENST00000636582.1:n.353-15431_353-15428delinsACTT
ENST00000636680.2:c.283-15431_283-15428delinsACTT	ENSP00000490271.2:n.283-15431_283-15428delinsACTT
ENST00000636900.1:n.239-15431_239-15428delinsACTT
ENST00000637842.1:c.149-15431_149-15428delinsACTT	ENSP00000489718.1:n.149-15431_149-15428delinsACTT