Canonical Allele Identifier: CA2637966612

Gene: NAGLU

Linked Data

• gnomAD v4: 17-42536746-G-GAGAGATAGA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42536746_42536747insAGAGATAGA , CM000679.2:g.42536746_42536747insAGAGATAGA	GRCh38
NC_000017.10:g.40688764_40688765insAGAGATAGA , CM000679.1:g.40688764_40688765insAGAGATAGA	GRCh37
NC_000017.9:g.37942290_37942291insAGAGATAGA	NCBI36
NG_011552.1:g.5814_5815insAGAGATAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.383+91_383+92insAGAGATAGA MANE Select	ENSP00000225927.1:n.383+91_383+92insAGAGATAGA
ENST00000225927.6:c.383+91_383+92insAGAGATAGA	ENSP00000225927.1:n.383+91_383+92insAGAGATAGA
ENST00000586516.5:c.133+91_133+92insAGAGATAGA
ENST00000591587.1:c.126+91_126+92insAGAGATAGA	ENSP00000467836.1:n.126+91_126+92insAGAGATAGA
NM_000263.3:c.383+91_383+92insAGAGATAGA	NP_000254.2:n.383+91_383+92insAGAGATAGA
XM_006721920.2:c.-360+91_-360+92insAGAGATAGA	XP_006721983.1:n.-360+91_-360+92insAGAGATAGA
XM_011524840.1:c.-360+91_-360+92insAGAGATAGA	XP_011523142.1:n.-360+91_-360+92insAGAGATAGA
XM_024450771.1:c.384-71_384-70insAGAGATAGA	XP_024306539.1:n.384-71_384-70insAGAGATAGA
NM_000263.4:c.383+91_383+92insAGAGATAGA MANE Select	NP_000254.2:n.383+91_383+92insAGAGATAGA