Canonical Allele Identifier: CA8577138

Gene: NAGLU

Linked Data

• dbSNP Id: rs771031938
• ExAC: 17:40696115 TG / T
• gnomAD v2: 17-40696115-TG-T
• gnomAD v4: 17-42544097-TG-T
• MyVariant Identifiers: chr17:g.40696116del (hg19) ; chr17:g.42544098del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42544098del , CM000679.2:g.42544098del	GRCh38
NC_000017.10:g.40696116del , CM000679.1:g.40696116del	GRCh37
NC_000017.9:g.37949642del	NCBI36
NG_011552.1:g.13166del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.2092del MANE Select	ENSP00000225927.1:p.Asp698ThrfsTer?
ENST00000225927.6:c.2092del	ENSP00000225927.1:p.Asp698ThrfsTer?
ENST00000591587.1:c.1430del	ENSP00000467836.1:n.1430del
NM_000263.3:c.2092del	NP_000254.2:p.Asp698ThrfsTer?
XM_006721920.2:c.1261del	XP_006721983.1:p.Asp421ThrfsTer?
XM_011524840.1:c.1093del	XP_011523142.1:p.Asp365ThrfsTer?
XM_017024687.1:c.1261del	XP_016880176.1:p.Asp421ThrfsTer?
XM_024450771.1:c.2149del	XP_024306539.1:p.Asp717ThrfsTer?
XM_024450772.1:c.1093del	XP_024306540.1:p.Asp365ThrfsTer?
NM_000263.4:c.2092del MANE Select	NP_000254.2:p.Asp698ThrfsTer?