Canonical Allele Identifier: CA202998
Community Standard Title: NM_000263.4(NAGLU):c.944dup (p.Asn315LysfsTer2)
Gene: NAGLU HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42541129dup , CM000679.2:g.42541129dup GRCh38
NC_000017.10:g.40693147dup , CM000679.1:g.40693147dup GRCh37
NC_000017.9:g.37946673dup NCBI36
NG_011552.1:g.10197dup

Transcript Alleles

HGVS Amino-acid Change
NM_000263.4:c.944dup MANE Select NP_000254.2:p.Asn315LysfsTer2
ENST00000225927.7:c.944dup MANE Select ENSP00000225927.1:p.Asn315LysfsTer2
NM_000263.3:c.944dup NP_000254.2:p.Asn315LysfsTer2
ENST00000225927.6:c.944dup ENSP00000225927.1:p.Asn315LysfsTer2
ENST00000591587.1:c.360-1899dup ENSP00000467836.1:n.360-1899dup
ENST00000592454.1:c.39dup
XM_006721920.2:c.113dup XP_006721983.1:p.Asn38LysfsTer2
XM_011524840.1:c.23-1899dup XP_011523142.1:n.23-1899dup
XM_017024687.1:c.113dup XP_016880176.1:p.Asn38LysfsTer2
XM_024450771.1:c.1001dup XP_024306539.1:p.Asn334LysfsTer2
XM_024450772.1:c.23-1899dup XP_024306540.1:n.23-1899dup
Search 100 bp 5'
Search 100 bp 3'