Canonical Allele Identifier: CA2261182787

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44007629_44007630delinsTG , CM000679.2:g.44007629_44007630delinsTG GRCh38
NC_000017.10:g.42084997_42084998delinsTG , CM000679.1:g.42084997_42084998delinsTG GRCh37
NC_000017.9:g.39440523_39440524delinsTG NCBI36
NG_008106.1:g.7966_7967delinsTG
NG_023338.1:g.1840_1841delinsCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000293404.8:c.1307_1308delinsTG (NAGS) MANE Select ENSP00000293404.2:p.Leu436=
ENST00000293404.7:c.1307_1308delinsTG (NAGS) ENSP00000293404.2:p.Leu436=
ENST00000589767.1:c.1238_1239delinsTG (NAGS) ENSP00000465408.1:p.Leu413=
ENST00000592915.1:n.1195_1196delinsTG (NAGS)
NM_153006.2:c.1307_1308delinsTG (NAGS) NP_694551.1:p.Leu436=
XM_011524438.1:c.1268+135_1268+136delinsTG (NAGS) XP_011522740.1:n.1268+135_1268+136delinsTG
XM_011524439.1:c.809_810delinsTG (NAGS) XP_011522741.1:p.Leu270=
XM_011525035.1:c.-463+15942_-463+15943delinsCA (PYY) XP_011523337.1:n.-463+15942_-463+15943delinsCA
XM_011524439.2:c.809_810delinsTG (NAGS) XP_011522741.1:p.Leu270=
NM_153006.3:c.1307_1308delinsTG (NAGS) MANE Select NP_694551.1:p.Leu436=