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_000004.12:g.68670371_68670377del , CM000666.2:g.68670371_68670377del	GRCh38
NC_000004.11:g.69536089_69536095del , CM000666.1:g.69536089_69536095del	GRCh37
NC_000004.10:g.69218684_69218690del	NCBI36
NG_052676.1:g.5400_5406del

Transcript Alleles

HGVS	Amino-acid change
ENST00000338206.6:c.242_248del MANE Select	ENSP00000341045.5:p.Leu81Ter
ENST00000338206.5:c.242_248del	ENSP00000341045.5:p.Leu81Ter
ENST00000616841.4:c.242_248del	ENSP00000482004.1:p.Leu81Ter
NM_001076.3:c.242_248del	NP_001067.2:p.Leu81Ter
NM_001076.4:c.242_248del MANE Select	NP_001067.2:p.Leu81Ter