Canonical Allele Identifier: CA2594069905

Gene: NAGLU

Linked Data

• gnomAD v3: 17-42538276-T-TTGAATGAA
• gnomAD v4: 17-42538276-T-TTGAATGAA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42538293_42538300dup , CM000679.2:g.42538293_42538300dup	GRCh38
NC_000017.10:g.40690311_40690318dup , CM000679.1:g.40690311_40690318dup	GRCh37
NC_000017.9:g.37943837_37943844dup	NCBI36
NG_011552.1:g.7361_7368dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.532-46_532-39dup MANE Select	ENSP00000225927.1:n.532-46_532-39dup
ENST00000225927.6:c.532-46_532-39dup	ENSP00000225927.1:n.532-46_532-39dup
ENST00000586516.5:c.134-46_134-39dup
ENST00000590358.1:c.220-46_220-39dup	ENSP00000466892.1:n.220-46_220-39dup
ENST00000591587.1:c.127-46_127-39dup	ENSP00000467836.1:n.127-46_127-39dup
NM_000263.3:c.532-46_532-39dup	NP_000254.2:n.532-46_532-39dup
XM_006721920.2:c.-211-46_-211-39dup	XP_006721983.1:n.-211-46_-211-39dup
XM_011524840.1:c.-211-46_-211-39dup	XP_011523142.1:n.-211-46_-211-39dup
XM_017024687.1:c.-211-46_-211-39dup	XP_016880176.1:n.-211-46_-211-39dup
XM_024450771.1:c.589-46_589-39dup	XP_024306539.1:n.589-46_589-39dup
XM_024450772.1:c.-211-46_-211-39dup	XP_024306540.1:n.-211-46_-211-39dup
NM_000263.4:c.532-46_532-39dup MANE Select	NP_000254.2:n.532-46_532-39dup