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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.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2260526696
Gene: NAGLU
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.42536326_42536327delinsCG , CM000679.2:g.42536326_42536327delinsCG
GRCh38
NC_000017.10:g.40688344_40688345delinsCG , CM000679.1:g.40688344_40688345delinsCG
GRCh37
NC_000017.9:g.37941870_37941871delinsCG
NCBI36
NG_011552.1:g.5394_5395delinsCG
Transcript Alleles
HGVS
Amino-acid change
ENST00000225927.7:c.54_55delinsCG
MANE Select
ENSP00000225927.1:p.Ala18=
ENST00000225927.6:c.54_55delinsCG
ENSP00000225927.1:p.Ala18=
NM_000263.3:c.54_55delinsCG
NP_000254.2:p.Ala18=
XM_024450771.1:c.54_55delinsCG
XP_024306539.1:p.Ala18=
NM_000263.4:c.54_55delinsCG
MANE Select
NP_000254.2:p.Ala18=
Search 100 bp 5'
Search 100 bp 3'