Canonical Allele Identifier: CA2260527915
Gene: NAGLU HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42538576_42538577delinsAC , CM000679.2:g.42538576_42538577delinsAC GRCh38
NC_000017.10:g.40690594_40690595delinsAC , CM000679.1:g.40690594_40690595delinsAC GRCh37
NC_000017.9:g.37944120_37944121delinsAC NCBI36
NG_011552.1:g.7644_7645delinsAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.678+91_679-93delinsAC MANE Select ENSP00000225927.1:n.678+91_679-93delinsAC
ENST00000225927.6:c.678+91_679-93delinsAC ENSP00000225927.1:n.678+91_679-93delinsAC
ENST00000586516.5:c.280+91_281-93delinsAC
ENST00000591587.1:c.273+91_274-93delinsAC ENSP00000467836.1:n.273+91_274-93delinsAC
NM_000263.3:c.678+91_679-93delinsAC NP_000254.2:n.678+91_679-93delinsAC
XM_006721920.2:c.-65+91_-64-93delinsAC XP_006721983.1:n.-65+91_-64-93delinsAC
XM_011524840.1:c.-65+91_-64-93delinsAC XP_011523142.1:n.-65+91_-64-93delinsAC
XM_017024687.1:c.-65+91_-64-93delinsAC XP_016880176.1:n.-65+91_-64-93delinsAC
XM_024450771.1:c.735+91_736-93delinsAC XP_024306539.1:n.735+91_736-93delinsAC
XM_024450772.1:c.-65+91_-64-93delinsAC XP_024306540.1:n.-65+91_-64-93delinsAC
NM_000263.4:c.678+91_679-93delinsAC MANE Select NP_000254.2:n.678+91_679-93delinsAC