Canonical Allele Identifier: CA2261182228

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44006637_44006638delinsCG , CM000679.2:g.44006637_44006638delinsCG GRCh38
NC_000017.10:g.42084005_42084006delinsCG , CM000679.1:g.42084005_42084006delinsCG GRCh37
NC_000017.9:g.39439531_39439532delinsCG NCBI36
NG_008106.1:g.6974_6975delinsCG
NG_023338.1:g.2832_2833delinsCG

Transcript Alleles

HGVS Amino-acid Change
ENST00000293404.8:c.1024_1025delinsCG (NAGS) MANE Select ENSP00000293404.2:p.Arg342=
ENST00000293404.7:c.1024_1025delinsCG (NAGS) ENSP00000293404.2:p.Arg342=
ENST00000589767.1:c.931_932delinsCG (NAGS) ENSP00000465408.1:p.Arg311=
ENST00000592915.1:n.299_300delinsCG (NAGS)
NM_153006.2:c.1024_1025delinsCG (NAGS) NP_694551.1:p.Arg342=
XM_011524438.1:c.1024_1025delinsCG (NAGS) XP_011522740.1:p.Arg342=
XM_011524439.1:c.526_527delinsCG (NAGS) XP_011522741.1:p.Arg176=
XM_011525035.1:c.-463+16934_-463+16935delinsCG (PYY) XP_011523337.1:n.-463+16934_-463+16935delinsCG
XM_011524439.2:c.526_527delinsCG (NAGS) XP_011522741.1:p.Arg176=
NM_153006.3:c.1024_1025delinsCG (NAGS) MANE Select NP_694551.1:p.Arg342=