Canonical Allele Identifier: CA2637966332
Gene: NAGLU HGNC NCBI

Linked Data

gnomAD v4: 17-42536566-CTGCCACGTGG-C
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42536567_42536576del , CM000679.2:g.42536567_42536576del GRCh38
NC_000017.10:g.40688585_40688594del , CM000679.1:g.40688585_40688594del GRCh37
NC_000017.9:g.37942111_37942120del NCBI36
NG_011552.1:g.5635_5644del

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.295_304del MANE Select ENSP00000225927.1:p.Cys99ProfsTer20
ENST00000225927.6:c.295_304del ENSP00000225927.1:p.Cys99ProfsTer20
ENST00000586516.5:c.45_54del
ENST00000591587.1:c.38_47del ENSP00000467836.1:p.Leu13ProfsTer?
NM_000263.3:c.295_304del NP_000254.2:p.Cys99ProfsTer20
XM_006721920.2:c.-448_-439del XP_006721983.1:n.-448_-439del
XM_011524840.1:c.-448_-439del XP_011523142.1:n.-448_-439del
XM_024450771.1:c.295_304del XP_024306539.1:p.Cys99ProfsTer20
NM_000263.4:c.295_304del MANE Select NP_000254.2:p.Cys99ProfsTer20
Search 100 bp 5'
Search 100 bp 3'