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.11310004_11310006delinsCTG , CM000678.2:g.11310004_11310006delinsCTG	GRCh38
NC_000016.9:g.11403861_11403863delinsCTG , CM000678.1:g.11403861_11403863delinsCTG	GRCh37
NC_000016.8:g.11311362_11311364delinsCTG	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000649869.1:n.152+60226_152+60228delinsCTG
ENST00000572173.1:c.-436-2825_-436-2823delinsCTG	ENSP00000461206.1:n.-436-2825_-436-2823delinsCTG
ENST00000573910.1:n.161-6448_161-6446delinsCTG
XR_933070.1:n.733+60226_733+60228delinsCTG
XR_933070.3:n.876+60226_876+60228delinsCTG