Canonical Allele Identifier: CA2809524981
Gene: NAGLU HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42541236_42541239dup , CM000679.2:g.42541236_42541239dup GRCh38
NC_000017.10:g.40693254_40693257dup , CM000679.1:g.40693254_40693257dup GRCh37
NC_000017.9:g.37946780_37946783dup NCBI36
NG_011552.1:g.10304_10307dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.1021+30_1021+33dup MANE Select ENSP00000225927.1:n.1021+30_1021+33dup
ENST00000225927.6:c.1021+30_1021+33dup ENSP00000225927.1:n.1021+30_1021+33dup
ENST00000591587.1:c.360-1792_360-1789dup ENSP00000467836.1:n.360-1792_360-1789dup
ENST00000592454.1:c.116+30_116+33dup
NM_000263.3:c.1021+30_1021+33dup NP_000254.2:n.1021+30_1021+33dup
XM_006721920.2:c.190+30_190+33dup XP_006721983.1:n.190+30_190+33dup
XM_011524840.1:c.23-1792_23-1789dup XP_011523142.1:n.23-1792_23-1789dup
XM_017024687.1:c.190+30_190+33dup XP_016880176.1:n.190+30_190+33dup
XM_024450771.1:c.1078+30_1078+33dup XP_024306539.1:n.1078+30_1078+33dup
XM_024450772.1:c.23-1792_23-1789dup XP_024306540.1:n.23-1792_23-1789dup
NM_000263.4:c.1021+30_1021+33dup MANE Select NP_000254.2:n.1021+30_1021+33dup