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_000018.10:g.9134359_9134363delinsCTCTG , CM000680.2:g.9134359_9134363delinsCTCTG	GRCh38
NC_000018.9:g.9134357_9134361delinsCTCTG , CM000680.1:g.9134357_9134361delinsCTCTG	GRCh37
NC_000018.8:g.9124357_9124361delinsCTCTG	NCBI36
NG_013355.1:g.36730_36734delinsCTCTG
NG_047134.1:g.2607_2611delinsCTCTG

Transcript Alleles

HGVS	Amino-acid Change
NR_110771.1:n.358-853_358-849delinsCAGAG
NR_110772.1:n.358-853_358-849delinsCAGAG