Canonical Allele Identifier: CA772109880

Gene: NAGLU

Linked Data

• dbSNP Id: rs1203765168
• MyVariant Identifiers: chr17:g.40688787_40688788insCGCCTCCAGCAGCTGTGT (hg19) ; chr17:g.42536769_42536770insCGCCTCCAGCAGCTGTGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42536770_42536787dup , CM000679.2:g.42536770_42536787dup	GRCh38
NC_000017.10:g.40688788_40688805dup , CM000679.1:g.40688788_40688805dup	GRCh37
NC_000017.9:g.37942314_37942331dup	NCBI36
NG_011552.1:g.5838_5855dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.383+115_383+132dup MANE Select	ENSP00000225927.1:n.383+115_383+132dup
ENST00000225927.6:c.383+115_383+132dup	ENSP00000225927.1:n.383+115_383+132dup
ENST00000586516.5:c.133+115_133+132dup
ENST00000591587.1:c.126+115_126+132dup	ENSP00000467836.1:n.126+115_126+132dup
NM_000263.3:c.383+115_383+132dup	NP_000254.2:n.383+115_383+132dup
XM_006721920.2:c.-360+115_-360+132dup	XP_006721983.1:n.-360+115_-360+132dup
XM_011524840.1:c.-360+115_-360+132dup	XP_011523142.1:n.-360+115_-360+132dup
XM_024450771.1:c.384-47_384-30dup	XP_024306539.1:n.384-47_384-30dup
NM_000263.4:c.383+115_383+132dup MANE Select	NP_000254.2:n.383+115_383+132dup