Canonical Allele Identifier: CA626218552

Gene: NAGLU

Linked Data

• dbSNP Id: rs1199726700
• gnomAD v2: 17-40690374-C-CCTGCCTGATCT
• gnomAD v4: 17-42538356-C-CCTGCCTGATCT
• MyVariant Identifiers: chr17:g.40690374_40690375insCTGCCTGATCT (hg19) ; chr17:g.42538356_42538357insCTGCCTGATCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42538359_42538360insCCTGATCTCTG , CM000679.2:g.42538359_42538360insCCTGATCTCTG	GRCh38
NC_000017.10:g.40690377_40690378insCCTGATCTCTG , CM000679.1:g.40690377_40690378insCCTGATCTCTG	GRCh37
NC_000017.9:g.37943903_37943904insCCTGATCTCTG	NCBI36
NG_011552.1:g.7427_7428insCCTGATCTCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.552_553insCCTGATCTCTG MANE Select	ENSP00000225927.1:p.Thr185ProfsTer4
ENST00000225927.6:c.552_553insCCTGATCTCTG	ENSP00000225927.1:p.Thr185ProfsTer4
ENST00000586516.5:c.154_155insCCTGATCTCTG
ENST00000590358.1:c.240_241insCCTGATCTCTG	ENSP00000466892.1:p.Thr81ProfsTer4
ENST00000591587.1:c.147_148insCCTGATCTCTG	ENSP00000467836.1:p.Thr50ProfsTer4
NM_000263.3:c.552_553insCCTGATCTCTG	NP_000254.2:p.Thr185ProfsTer4
XM_006721920.2:c.-191_-190insCCTGATCTCTG	XP_006721983.1:n.-191_-190insCCTGATCTCTG
XM_011524840.1:c.-191_-190insCCTGATCTCTG	XP_011523142.1:n.-191_-190insCCTGATCTCTG
XM_017024687.1:c.-191_-190insCCTGATCTCTG	XP_016880176.1:n.-191_-190insCCTGATCTCTG
XM_024450771.1:c.609_610insCCTGATCTCTG	XP_024306539.1:p.Thr204ProfsTer4
XM_024450772.1:c.-191_-190insCCTGATCTCTG	XP_024306540.1:n.-191_-190insCCTGATCTCTG
NM_000263.4:c.552_553insCCTGATCTCTG MANE Select	NP_000254.2:p.Thr185ProfsTer4