Canonical Allele Identifier: CA2809524818
Gene: NAGLU HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42536283_42536285del , CM000679.2:g.42536283_42536285del GRCh38
NC_000017.10:g.40688301_40688303del , CM000679.1:g.40688301_40688303del GRCh37
NC_000017.9:g.37941827_37941829del NCBI36
NG_011552.1:g.5351_5353del

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.11_13del MANE Select ENSP00000225927.1:p.Val4del
ENST00000225927.6:c.11_13del ENSP00000225927.1:p.Val4del
NM_000263.3:c.11_13del NP_000254.2:p.Val4del
XM_024450771.1:c.11_13del XP_024306539.1:p.Val4del
NM_000263.4:c.11_13del MANE Select NP_000254.2:p.Val4del
Search 100 bp 5'
Search 100 bp 3'