Canonical Allele Identifier: CA983828910

Gene: NAGLU

Linked Data

• dbSNP Id: rs368717206
• gnomAD v3: 17-42538276-TTGAATGAATGAA-T
• gnomAD v4: 17-42538276-TTGAATGAATGAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42538289_42538300del , CM000679.2:g.42538289_42538300del	GRCh38
NC_000017.10:g.40690307_40690318del , CM000679.1:g.40690307_40690318del	GRCh37
NC_000017.9:g.37943833_37943844del	NCBI36
NG_011552.1:g.7357_7368del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.532-50_532-39del MANE Select	ENSP00000225927.1:n.532-50_532-39del
ENST00000225927.6:c.532-50_532-39del	ENSP00000225927.1:n.532-50_532-39del
ENST00000586516.5:c.134-50_134-39del
ENST00000590358.1:c.220-50_220-39del	ENSP00000466892.1:n.220-50_220-39del
ENST00000591587.1:c.127-50_127-39del	ENSP00000467836.1:n.127-50_127-39del
NM_000263.3:c.532-50_532-39del	NP_000254.2:n.532-50_532-39del
XM_006721920.2:c.-211-50_-211-39del	XP_006721983.1:n.-211-50_-211-39del
XM_011524840.1:c.-211-50_-211-39del	XP_011523142.1:n.-211-50_-211-39del
XM_017024687.1:c.-211-50_-211-39del	XP_016880176.1:n.-211-50_-211-39del
XM_024450771.1:c.589-50_589-39del	XP_024306539.1:n.589-50_589-39del
XM_024450772.1:c.-211-50_-211-39del	XP_024306540.1:n.-211-50_-211-39del
NM_000263.4:c.532-50_532-39del MANE Select	NP_000254.2:n.532-50_532-39del