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.155461141_155461143delinsCAG , CM000669.2:g.155461141_155461143delinsCAG	GRCh38
NC_000007.13:g.155253836_155253838delinsCAG , CM000669.1:g.155253836_155253838delinsCAG	GRCh37
NC_000007.12:g.154946597_154946599delinsCAG	NCBI36
NG_007124.1:g.9422_9424delinsCAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000297375.4:c.686-1230_686-1228delinsCAG MANE Select	ENSP00000297375.4:n.686-1230_686-1228deli...
NM_001427.3:c.686-1230_686-1228delinsCAG	NP_001418.2:n.686-1230_686-1228delinsCAG
NM_001427.4:c.686-1230_686-1228delinsCAG MANE Select	NP_001418.2:n.686-1230_686-1228delinsCAG