Canonical Allele Identifier: CA2260529088

Gene: NAGLU

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42540961_42540962delinsAG , CM000679.2:g.42540961_42540962delinsAG	GRCh38
NC_000017.10:g.40692979_40692980delinsAG , CM000679.1:g.40692979_40692980delinsAG	GRCh37
NC_000017.9:g.37946505_37946506delinsAG	NCBI36
NG_011552.1:g.10029_10030delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.776_777delinsAG MANE Select	ENSP00000225927.1:p.Gln259=
ENST00000225927.6:c.776_777delinsAG	ENSP00000225927.1:p.Gln259=
ENST00000586516.5:c.378_379delinsAG
ENST00000591587.1:c.360-2067_360-2066delinsAG	ENSP00000467836.1:n.360-2067_360-2066delinsAG
NM_000263.3:c.776_777delinsAG	NP_000254.2:p.Gln259=
XM_006721920.2:c.23-78_23-77delinsAG	XP_006721983.1:n.23-78_23-77delinsAG
XM_011524840.1:c.23-2067_23-2066delinsAG	XP_011523142.1:n.23-2067_23-2066delinsAG
XM_017024687.1:c.23-78_23-77delinsAG	XP_016880176.1:n.23-78_23-77delinsAG
XM_024450771.1:c.833_834delinsAG	XP_024306539.1:p.Gln278=
XM_024450772.1:c.23-2067_23-2066delinsAG	XP_024306540.1:n.23-2067_23-2066delinsAG
NM_000263.4:c.776_777delinsAG MANE Select	NP_000254.2:p.Gln259=