Canonical Allele Identifier: CA2261182835

Linked Data

dbSNP Id: rs2049114129

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44007715del , CM000679.2:g.44007715del GRCh38
NC_000017.10:g.42085083del , CM000679.1:g.42085083del GRCh37
NC_000017.9:g.39440609del NCBI36
NG_008106.1:g.8052del
NG_023338.1:g.1755del

Transcript Alleles

HGVS Amino-acid Change
ENST00000293404.8:c.1393del (NAGS) MANE Select ENSP00000293404.2:p.Arg465GlyfsTer?
ENST00000293404.7:c.1393del (NAGS) ENSP00000293404.2:p.Arg465GlyfsTer?
ENST00000589767.1:c.1324del (NAGS) ENSP00000465408.1:p.Arg442GlyfsTer?
ENST00000592915.1:n.1281del (NAGS)
NM_153006.2:c.1393del (NAGS) NP_694551.1:p.Arg465GlyfsTer?
XM_011524438.1:c.1268+221del (NAGS) XP_011522740.1:n.1268+221del
XM_011524439.1:c.895del (NAGS) XP_011522741.1:p.Arg299GlyfsTer?
XM_011525035.1:c.-463+15857del (PYY) XP_011523337.1:n.-463+15857del
XM_011524439.2:c.895del (NAGS) XP_011522741.1:p.Arg299GlyfsTer?
NM_153006.3:c.1393del (NAGS) MANE Select NP_694551.1:p.Arg465GlyfsTer?