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_000012.12:g.102855159del , CM000674.2:g.102855159del	GRCh38
NC_000012.11:g.103248937del , CM000674.1:g.103248937del	GRCh37
NC_000012.10:g.101773067del	NCBI36
NG_008690.1:g.67445del
NG_008690.2:g.108253del

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.684del MANE Select	ENSP00000448059.1:p.Asp229ThrfsTer?
ENST00000307000.7:c.669del	ENSP00000303500.2:p.Asp224ThrfsTer?
ENST00000549111.5:n.780del
ENST00000553106.5:c.684del	ENSP00000448059.1:p.Asp229ThrfsTer?
NM_000277.1:c.684del	NP_000268.1:p.Asp229ThrfsTer?
XM_011538422.1:c.684del	XP_011536724.1:p.Asp229ThrfsTer?
NM_000277.2:c.684del	NP_000268.1:p.Asp229ThrfsTer?
NM_001354304.1:c.684del	NP_001341233.1:p.Asp229ThrfsTer?
XM_017019370.2:c.684del	XP_016874859.1:p.Asp229ThrfsTer?
NM_000277.3:c.684del MANE Select	NP_000268.1:p.Asp229ThrfsTer?
NM_001354304.2:c.684del	NP_001341233.1:p.Asp229ThrfsTer?