Canonical Allele Identifier: CA626218633

Gene: NAGLU

Linked Data

• dbSNP Id: rs1246629334
• gnomAD v2: 17-40695914-CAGTG-C
• gnomAD v3: 17-42543896-CAGTG-C
• gnomAD v4: 17-42543896-CAGTG-C
• MyVariant Identifiers: chr17:g.40695915_40695918del (hg19) ; chr17:g.42543897_42543900del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42543899_42543902del , CM000679.2:g.42543899_42543902del	GRCh38
NC_000017.10:g.40695917_40695920del , CM000679.1:g.40695917_40695920del	GRCh37
NC_000017.9:g.37949443_37949446del	NCBI36
NG_011552.1:g.12967_12970del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.1893_1896del MANE Select	ENSP00000225927.1:p.Ser631ArgfsTer15
ENST00000225927.6:c.1893_1896del	ENSP00000225927.1:p.Ser631ArgfsTer15
ENST00000591587.1:c.1231_1234del	ENSP00000467836.1:n.1231_1234del
NM_000263.3:c.1893_1896del	NP_000254.2:p.Ser631ArgfsTer15
XM_006721920.2:c.1062_1065del	XP_006721983.1:p.Ser354ArgfsTer15
XM_011524840.1:c.894_897del	XP_011523142.1:p.Ser298ArgfsTer15
XM_017024687.1:c.1062_1065del	XP_016880176.1:p.Ser354ArgfsTer15
XM_024450771.1:c.1950_1953del	XP_024306539.1:p.Ser650ArgfsTer15
XM_024450772.1:c.894_897del	XP_024306540.1:p.Ser298ArgfsTer15
NM_000263.4:c.1893_1896del MANE Select	NP_000254.2:p.Ser631ArgfsTer15