Canonical Allele Identifier: CA2261182232

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44006644_44006647delinsCCCA , CM000679.2:g.44006644_44006647delinsCCCA GRCh38
NC_000017.10:g.42084012_42084015delinsCCCA , CM000679.1:g.42084012_42084015delinsCCCA GRCh37
NC_000017.9:g.39439538_39439541delinsCCCA NCBI36
NG_008106.1:g.6981_6984delinsCCCA
NG_023338.1:g.2823_2826delinsTGGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000293404.8:c.1031_1034delinsCCCA (NAGS) MANE Select ENSP00000293404.2:p.Pro344=
ENST00000293404.7:c.1031_1034delinsCCCA (NAGS) ENSP00000293404.2:p.Pro344=
ENST00000589767.1:c.938_941delinsCCCA (NAGS) ENSP00000465408.1:p.Pro313=
ENST00000592915.1:n.306_309delinsCCCA (NAGS)
NM_153006.2:c.1031_1034delinsCCCA (NAGS) NP_694551.1:p.Pro344=
XM_011524438.1:c.1031_1034delinsCCCA (NAGS) XP_011522740.1:p.Pro344=
XM_011524439.1:c.533_536delinsCCCA (NAGS) XP_011522741.1:p.Pro178=
XM_011525035.1:c.-463+16925_-463+16928delinsTGGG (PYY) XP_011523337.1:n.-463+16925_-463+16928delinsTGGG
XM_011524439.2:c.533_536delinsCCCA (NAGS) XP_011522741.1:p.Pro178=
NM_153006.3:c.1031_1034delinsCCCA (NAGS) MANE Select NP_694551.1:p.Pro344=