Canonical Allele Identifier: CA983829235

Gene: NAGLU

Linked Data

• gnomAD v3: 17-42538797-A-ATTTTTTTTTTTTTTTT
• gnomAD v4: 17-42538797-A-ATTTTTTTTTTTTTTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42538801_42538802insTTTTTTTTTTTTTTTT , CM000679.2:g.42538801_42538802insTTTTTTTTTTTTTTTT	GRCh38
NC_000017.10:g.40690819_40690820insTTTTTTTTTTTTTTTT , CM000679.1:g.40690819_40690820insTTTTTTTTTTTTTTTT	GRCh37
NC_000017.9:g.37944345_37944346insTTTTTTTTTTTTTTTT	NCBI36
NG_011552.1:g.7869_7870insTTTTTTTTTTTTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.764+46_764+47insTTTTTTTTTTTTTTTT MANE Select	ENSP00000225927.1:n.764+46_764+47insTTTTTTTTTTTTTTTT
ENST00000225927.6:c.764+46_764+47insTTTTTTTTTTTTTTTT	ENSP00000225927.1:n.764+46_764+47insTTTTTTTTTTTTTTTT
ENST00000586516.5:c.366+46_366+47insTTTTTTTTTTTTTTTT
ENST00000591587.1:c.359+46_359+47insTTTTTTTTTTTTTTTT	ENSP00000467836.1:n.359+46_359+47insTTTTTTTTTTTTTTTT
NM_000263.3:c.764+46_764+47insTTTTTTTTTTTTTTTT	NP_000254.2:n.764+46_764+47insTTTTTTTTTTTTTTTT
XM_006721920.2:c.22+46_22+47insTTTTTTTTTTTTTTTT	XP_006721983.1:n.22+46_22+47insTTTTTTTTTTTTTTTT
XM_011524840.1:c.22+46_22+47insTTTTTTTTTTTTTTTT	XP_011523142.1:n.22+46_22+47insTTTTTTTTTTTTTTTT
XM_017024687.1:c.22+46_22+47insTTTTTTTTTTTTTTTT	XP_016880176.1:n.22+46_22+47insTTTTTTTTTTTTTTTT
XM_024450771.1:c.821+46_821+47insTTTTTTTTTTTTTTTT	XP_024306539.1:n.821+46_821+47insTTTTTTTTTTTTTTTT
XM_024450772.1:c.22+46_22+47insTTTTTTTTTTTTTTTT	XP_024306540.1:n.22+46_22+47insTTTTTTTTTTTTTTTT
NM_000263.4:c.764+46_764+47insTTTTTTTTTTTTTTTT MANE Select	NP_000254.2:n.764+46_764+47insTTTTTTTTTTTTTTTT