Canonical Allele Identifier: CA2637965884

Gene: NAGLU

Linked Data

• gnomAD v4: 17-42536439-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42536441del , CM000679.2:g.42536441del	GRCh38
NC_000017.10:g.40688459del , CM000679.1:g.40688459del	GRCh37
NC_000017.9:g.37941985del	NCBI36
NG_011552.1:g.5509del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.169del MANE Select	ENSP00000225927.1:p.Ala57LeufsTer?
ENST00000225927.6:c.169del	ENSP00000225927.1:p.Ala57LeufsTer?
NM_000263.3:c.169del	NP_000254.2:p.Ala57LeufsTer?
XM_024450771.1:c.169del	XP_024306539.1:p.Ala57LeufsTer?
NM_000263.4:c.169del MANE Select	NP_000254.2:p.Ala57LeufsTer?