Canonical Allele Identifier: CA2261182160

Linked Data

dbSNP Id: rs2049093554

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44006505_44006522del , CM000679.2:g.44006505_44006522del GRCh38
NC_000017.10:g.42083873_42083890del , CM000679.1:g.42083873_42083890del GRCh37
NC_000017.9:g.39439399_39439416del NCBI36
NG_008106.1:g.6842_6859del
NG_023338.1:g.2950_2967del

Transcript Alleles

HGVS Amino-acid Change
ENST00000293404.8:c.916-24_916-7del (NAGS) MANE Select ENSP00000293404.2:n.916-24_916-7del
ENST00000293404.7:c.916-24_916-7del (NAGS) ENSP00000293404.2:n.916-24_916-7del
ENST00000589767.1:c.823-24_823-7del (NAGS) ENSP00000465408.1:n.823-24_823-7del
ENST00000592915.1:n.191-24_191-7del (NAGS)
NM_153006.2:c.916-24_916-7del (NAGS) NP_694551.1:n.916-24_916-7del
XM_011524438.1:c.916-24_916-7del (NAGS) XP_011522740.1:n.916-24_916-7del
XM_011524439.1:c.418-24_418-7del (NAGS) XP_011522741.1:n.418-24_418-7del
XM_011525035.1:c.-463+17052_-463+17069del (PYY) XP_011523337.1:n.-463+17052_-463+17069del
XM_011524439.2:c.418-24_418-7del (NAGS) XP_011522741.1:n.418-24_418-7del
NM_153006.3:c.916-24_916-7del (NAGS) MANE Select NP_694551.1:n.916-24_916-7del