Canonical Allele Identifier: CA2637966424

Gene: NAGLU

Linked Data

• gnomAD v4: 17-42536690-G-GCGCTTACCCCCTCCCGGAGC

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42536695_42536714dup , CM000679.2:g.42536695_42536714dup	GRCh38
NC_000017.10:g.40688713_40688732dup , CM000679.1:g.40688713_40688732dup	GRCh37
NC_000017.9:g.37942239_37942258dup	NCBI36
NG_011552.1:g.5763_5782dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.383+40_383+59dup MANE Select	ENSP00000225927.1:n.383+40_383+59dup
ENST00000225927.6:c.383+40_383+59dup	ENSP00000225927.1:n.383+40_383+59dup
ENST00000586516.5:c.133+40_133+59dup
ENST00000591587.1:c.126+40_126+59dup	ENSP00000467836.1:n.126+40_126+59dup
NM_000263.3:c.383+40_383+59dup	NP_000254.2:n.383+40_383+59dup
XM_006721920.2:c.-360+40_-360+59dup	XP_006721983.1:n.-360+40_-360+59dup
XM_011524840.1:c.-360+40_-360+59dup	XP_011523142.1:n.-360+40_-360+59dup
XM_024450771.1:c.383+40_383+59dup	XP_024306539.1:n.383+40_383+59dup
NM_000263.4:c.383+40_383+59dup MANE Select	NP_000254.2:n.383+40_383+59dup