Canonical Allele Identifier: CA2580093985

Gene: NAGLU

Linked Data

• ClinVar Variation Id: 2015353
• ClinVar RCV Id: RCV002839411
• gnomAD v4: 17-42538699-C-CGGCAT

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42538701_42538705dup , CM000679.2:g.42538701_42538705dup	GRCh38
NC_000017.10:g.40690719_40690723dup , CM000679.1:g.40690719_40690723dup	GRCh37
NC_000017.9:g.37944245_37944249dup	NCBI36
NG_011552.1:g.7769_7773dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.710_714dup MANE Select	ENSP00000225927.1:p.Thr239AlafsTer2
ENST00000225927.6:c.710_714dup	ENSP00000225927.1:p.Thr239AlafsTer2
ENST00000586516.5:c.312_316dup
ENST00000591587.1:c.305_309dup	ENSP00000467836.1:p.Thr104AlafsTer2
NM_000263.3:c.710_714dup	NP_000254.2:p.Thr239AlafsTer2
XM_006721920.2:c.-33_-29dup	XP_006721983.1:n.-33_-29dup
XM_011524840.1:c.-33_-29dup	XP_011523142.1:n.-33_-29dup
XM_017024687.1:c.-33_-29dup	XP_016880176.1:n.-33_-29dup
XM_024450771.1:c.767_771dup	XP_024306539.1:p.Thr258AlafsTer2
XM_024450772.1:c.-33_-29dup	XP_024306540.1:n.-33_-29dup
NM_000263.4:c.710_714dup MANE Select	NP_000254.2:p.Thr239AlafsTer2