Canonical Allele Identifier: CA2260526917

Gene: NAGLU

Linked Data

• dbSNP Id: rs2092907444
• gnomAD v4: 17-42536709-GCCGCTGCCA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42536712_42536720del , CM000679.2:g.42536712_42536720del	GRCh38
NC_000017.10:g.40688730_40688738del , CM000679.1:g.40688730_40688738del	GRCh37
NC_000017.9:g.37942256_37942264del	NCBI36
NG_011552.1:g.5780_5788del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.383+57_383+65del MANE Select	ENSP00000225927.1:n.383+57_383+65del
ENST00000225927.6:c.383+57_383+65del	ENSP00000225927.1:n.383+57_383+65del
ENST00000586516.5:c.133+57_133+65del
ENST00000591587.1:c.126+57_126+65del	ENSP00000467836.1:n.126+57_126+65del
NM_000263.3:c.383+57_383+65del	NP_000254.2:n.383+57_383+65del
XM_006721920.2:c.-360+57_-360+65del	XP_006721983.1:n.-360+57_-360+65del
XM_011524840.1:c.-360+57_-360+65del	XP_011523142.1:n.-360+57_-360+65del
XM_024450771.1:c.383+57_383+65del	XP_024306539.1:n.383+57_383+65del
NM_000263.4:c.383+57_383+65del MANE Select	NP_000254.2:n.383+57_383+65del