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.94415273_94415276del , CM000669.2:g.94415273_94415276del	GRCh38
NC_000007.13:g.94044585_94044588del , CM000669.1:g.94044585_94044588del	GRCh37
NC_000007.12:g.93882521_93882524del	NCBI36
NG_007405.1:g.25713_25716del , LRG_2:g.25713_25716del

Transcript Alleles

HGVS	Amino-acid change
ENST00000297268.11:c.1764+3_1764+6del
ENST00000297268.10:c.1764+3_1764+6del
ENST00000473573.5:n.101+3_101+6del
ENST00000488298.5:n.188+3_188+6del
ENST00000620463.1:c.1758+3_1758+6del
NM_000089.3:c.1764+3_1764+6del , LRG_2t1:c.1764+3_1764+6del
NM_000089.4:c.1764+3_1764+6del