Canonical Allele Identifier: CA2261182244

Linked Data

dbSNP Id: rs2049096816

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44006661_44006667dup , CM000679.2:g.44006661_44006667dup GRCh38
NC_000017.10:g.42084029_42084035dup , CM000679.1:g.42084029_42084035dup GRCh37
NC_000017.9:g.39439555_39439561dup NCBI36
NG_008106.1:g.6998_7004dup
NG_023338.1:g.2803_2809dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000293404.8:c.1048_1054dup (NAGS) MANE Select ENSP00000293404.2:p.Thr352SerfsTer6
ENST00000293404.7:c.1048_1054dup (NAGS) ENSP00000293404.2:p.Thr352SerfsTer6
ENST00000589767.1:c.955_961dup (NAGS) ENSP00000465408.1:p.Thr321SerfsTer6
ENST00000592915.1:n.323_329dup (NAGS)
NM_153006.2:c.1048_1054dup (NAGS) NP_694551.1:p.Thr352SerfsTer6
XM_011524438.1:c.1048_1054dup (NAGS) XP_011522740.1:p.Thr352SerfsTer6
XM_011524439.1:c.550_556dup (NAGS) XP_011522741.1:p.Thr186SerfsTer6
XM_011525035.1:c.-463+16905_-463+16911dup (PYY) XP_011523337.1:n.-463+16905_-463+16911dup
XM_011524439.2:c.550_556dup (NAGS) XP_011522741.1:p.Thr186SerfsTer6
NM_153006.3:c.1048_1054dup (NAGS) MANE Select NP_694551.1:p.Thr352SerfsTer6