Canonical Allele Identifier: CA2637976287
Gene: NAGLU HGNC NCBI

Linked Data

gnomAD v4: 17-42544140-A-AAGCAGAGGTACCCCAGCC
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42544144_42544161dup , CM000679.2:g.42544144_42544161dup GRCh38
NC_000017.10:g.40696162_40696179dup , CM000679.1:g.40696162_40696179dup GRCh37
NC_000017.9:g.37949688_37949705dup NCBI36
NG_011552.1:g.13212_13229dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.2138_2155dup MANE Select ENSP00000225927.1:p.Gln718_Pro719insGlnArgTyrProSerGln
ENST00000225927.6:c.2138_2155dup ENSP00000225927.1:p.Gln718_Pro719insGlnArgTyrProSerGln
NM_000263.3:c.2138_2155dup NP_000254.2:p.Gln718_Pro719insGlnArgTyrProSerGln
XM_006721920.2:c.1307_1324dup XP_006721983.1:p.Gln441_Pro442insGlnArgTyrProSerGln
XM_011524840.1:c.1139_1156dup XP_011523142.1:p.Gln385_Pro386insGlnArgTyrProSerGln
XM_017024687.1:c.1307_1324dup XP_016880176.1:p.Gln441_Pro442insGlnArgTyrProSerGln
XM_024450771.1:c.2195_2212dup XP_024306539.1:p.Gln737_Pro738insGlnArgTyrProSerGln
XM_024450772.1:c.1139_1156dup XP_024306540.1:p.Gln385_Pro386insGlnArgTyrProSerGln
NM_000263.4:c.2138_2155dup MANE Select NP_000254.2:p.Gln718_Pro719insGlnArgTyrProSerGln
Search 100 bp 5'
Search 100 bp 3'