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_000007.14:g.34648731_34648735delinsAAAAG , CM000669.2:g.34648731_34648735delinsAAAAG	GRCh38
NC_000007.13:g.34688343_34688347delinsAAAAG , CM000669.1:g.34688343_34688347delinsAAAAG	GRCh37
NC_000007.12:g.34654868_34654872delinsAAAAG	NCBI36
NG_021366.1:g.190597_190601delinsCTTTT
NG_021366.2:g.190597_190601delinsCTTTT

Transcript Alleles

HGVS	Amino-acid change
NR_033664.1:n.280-78874_280-78870delinsCTTTT
NR_033665.1:n.279+80002_279+80006delinsCTTTT