Canonical Allele Identifier: CA772109852

Gene: NAGLU

Linked Data

• dbSNP Id: rs1289870468
• gnomAD v3: 17-42536679-G-GTCCGCCCGAGGCGCTTACCCCC
• gnomAD v4: 17-42536679-G-GTCCGCCCGAGGCGCTTACCCCC
• MyVariant Identifiers: chr17:g.40688697_40688698insTCCGCCCGAGGCGCTTACCCCC (hg19) ; chr17:g.42536679_42536680insTCCGCCCGAGGCGCTTACCCCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42536683_42536704dup , CM000679.2:g.42536683_42536704dup	GRCh38
NC_000017.10:g.40688701_40688722dup , CM000679.1:g.40688701_40688722dup	GRCh37
NC_000017.9:g.37942227_37942248dup	NCBI36
NG_011552.1:g.5751_5772dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.383+28_383+49dup MANE Select	ENSP00000225927.1:n.383+28_383+49dup
ENST00000225927.6:c.383+28_383+49dup	ENSP00000225927.1:n.383+28_383+49dup
ENST00000586516.5:c.133+28_133+49dup
ENST00000591587.1:c.126+28_126+49dup	ENSP00000467836.1:n.126+28_126+49dup
NM_000263.3:c.383+28_383+49dup	NP_000254.2:n.383+28_383+49dup
XM_006721920.2:c.-360+28_-360+49dup	XP_006721983.1:n.-360+28_-360+49dup
XM_011524840.1:c.-360+28_-360+49dup	XP_011523142.1:n.-360+28_-360+49dup
XM_024450771.1:c.383+28_383+49dup	XP_024306539.1:n.383+28_383+49dup
NM_000263.4:c.383+28_383+49dup MANE Select	NP_000254.2:n.383+28_383+49dup