Canonical Allele Identifier: CA8577142

Gene: NAGLU

Linked Data

• dbSNP Id: rs745831568
• ExAC: 17:40696140 C / CCACCACGCCCATTCAGAAACCTCCATGTTTTA
• MyVariant Identifiers: chr17:g.40696140_40696141insCACCACGCCCATTCAGAAACCTCCATGTTTTA (hg19) ; chr17:g.42544122_42544123insCACCACGCCCATTCAGAAACCTCCATGTTTTA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42544122_42544123insCACCACGCCCATTCAGAAACCTCCATGTTTTA , CM000679.2:g.42544122_42544123insCACCACGCCCATTCAGAAACCTCCATGTTTTA	GRCh38
NC_000017.10:g.40696140_40696141insCACCACGCCCATTCAGAAACCTCCATGTTTTA , CM000679.1:g.40696140_40696141insCACCACGCCCATTCAGAAACCTCCATGTTTTA	GRCh37
NC_000017.9:g.37949666_37949667insCACCACGCCCATTCAGAAACCTCCATGTTTTA	NCBI36
NG_011552.1:g.13190_13191insCACCACGCCCATTCAGAAACCTCCATGTTTTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.2116_2117insCACCACGCCCATTCAGAAACCTCCATGTTTTA MANE Select	ENSP00000225927.1:p.Gln706ProfsTer?
ENST00000225927.6:c.2116_2117insCACCACGCCCATTCAGAAACCTCCATGTTTTA	ENSP00000225927.1:p.Gln706ProfsTer?
ENST00000591587.1:c.1454_1455insCACCACGCCCATTCAGAAACCTCCATGTTTTA	ENSP00000467836.1:n.1454_1455insCACCACGCCCATTCAGAAACCTCCATGTT...
NM_000263.3:c.2116_2117insCACCACGCCCATTCAGAAACCTCCATGTTTTA	NP_000254.2:p.Gln706ProfsTer?
XM_006721920.2:c.1285_1286insCACCACGCCCATTCAGAAACCTCCATGTTTTA	XP_006721983.1:p.Gln429ProfsTer?
XM_011524840.1:c.1117_1118insCACCACGCCCATTCAGAAACCTCCATGTTTTA	XP_011523142.1:p.Gln373ProfsTer?
XM_017024687.1:c.1285_1286insCACCACGCCCATTCAGAAACCTCCATGTTTTA	XP_016880176.1:p.Gln429ProfsTer?
XM_024450771.1:c.2173_2174insCACCACGCCCATTCAGAAACCTCCATGTTTTA	XP_024306539.1:p.Gln725ProfsTer?
XM_024450772.1:c.1117_1118insCACCACGCCCATTCAGAAACCTCCATGTTTTA	XP_024306540.1:p.Gln373ProfsTer?
NM_000263.4:c.2116_2117insCACCACGCCCATTCAGAAACCTCCATGTTTTA MANE Select	NP_000254.2:p.Gln706ProfsTer?