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_000021.9:g.45987902_45990422del , CM000683.2:g.45987902_45990422del	GRCh38
NC_000021.8:g.47407816_47410336del , CM000683.1:g.47407816_47410336del	GRCh37
NC_000021.7:g.46232244_46234764del	NCBI36
NG_008674.1:g.11154_13674del , LRG_475:g.11154_13674del

Transcript Alleles

HGVS	Amino-acid change
ENST00000361866.8:c.804+248_1002del
ENST00000361866.7:c.804+248_1002del
ENST00000612273.1:c.804+248_1002del
NM_001848.2:c.804+248_1002del , LRG_475t1:c.804+248_1002del
NM_001848.3:c.804+248_1002del