Canonical Allele Identifier: CA2260527913

Gene: NAGLU

Linked Data

• dbSNP Id: rs2092913385
• gnomAD v3: 17-42538573-TTAAC-T
• gnomAD v4: 17-42538573-TTAAC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42538575_42538578del , CM000679.2:g.42538575_42538578del	GRCh38
NC_000017.10:g.40690593_40690596del , CM000679.1:g.40690593_40690596del	GRCh37
NC_000017.9:g.37944119_37944122del	NCBI36
NG_011552.1:g.7643_7646del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.678+90_679-92del MANE Select	ENSP00000225927.1:n.678+90_679-92del
ENST00000225927.6:c.678+90_679-92del	ENSP00000225927.1:n.678+90_679-92del
ENST00000586516.5:c.280+90_281-92del
ENST00000591587.1:c.273+90_274-92del	ENSP00000467836.1:n.273+90_274-92del
NM_000263.3:c.678+90_679-92del	NP_000254.2:n.678+90_679-92del
XM_006721920.2:c.-65+90_-64-92del	XP_006721983.1:n.-65+90_-64-92del
XM_011524840.1:c.-65+90_-64-92del	XP_011523142.1:n.-65+90_-64-92del
XM_017024687.1:c.-65+90_-64-92del	XP_016880176.1:n.-65+90_-64-92del
XM_024450771.1:c.735+90_736-92del	XP_024306539.1:n.735+90_736-92del
XM_024450772.1:c.-65+90_-64-92del	XP_024306540.1:n.-65+90_-64-92del
NM_000263.4:c.678+90_679-92del MANE Select	NP_000254.2:n.678+90_679-92del