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_000016.10:g.11309846_11309850delinsAAATT , CM000678.2:g.11309846_11309850delinsAAATT	GRCh38
NC_000016.9:g.11403703_11403707delinsAAATT , CM000678.1:g.11403703_11403707delinsAAATT	GRCh37
NC_000016.8:g.11311204_11311208delinsAAATT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649869.1:n.152+60068_152+60072delinsAAATT
ENST00000572173.1:c.-436-2983_-436-2979delinsAAATT	ENSP00000461206.1:n.-436-2983_-436-2979delinsAAATT
ENST00000573910.1:n.161-6606_161-6602delinsAAATT
XR_933070.1:n.733+60068_733+60072delinsAAATT
XR_933070.3:n.876+60068_876+60072delinsAAATT