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_000023.11:g.43949805del , CM000685.2:g.43949805del	GRCh38
NC_000023.10:g.43809051del , CM000685.1:g.43809051del	GRCh37
NC_000023.9:g.43693995del	NCBI36
NG_009832.1:g.28872del

Transcript Alleles

HGVS	Amino-acid change
ENST00000642620.1:c.397del (NDP) MANE Select	ENSP00000495972.1:p.Ser133ProfsTer?
ENST00000647044.1:c.397del (NDP)	ENSP00000495811.1:p.Ser133ProfsTer?
ENST00000378062.5:c.397del (NDP)	ENSP00000367301.5:p.Ser133ProfsTer?
ENST00000470584.1:n.441del (NDP)
NM_000266.3:c.397del (NDP)	NP_000257.1:p.Ser133ProfsTer?
NR_046631.1:n.74del (NDP-AS1)
NM_000266.4:c.397del (NDP) MANE Select	NP_000257.1:p.Ser133ProfsTer?