Canonical Allele Identifier: CA2261182241

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44006657_44006660delinsGGCC , CM000679.2:g.44006657_44006660delinsGGCC GRCh38
NC_000017.10:g.42084025_42084028delinsGGCC , CM000679.1:g.42084025_42084028delinsGGCC GRCh37
NC_000017.9:g.39439551_39439554delinsGGCC NCBI36
NG_008106.1:g.6994_6997delinsGGCC
NG_023338.1:g.2810_2813delinsGGCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000293404.8:c.1044_1047delinsGGCC (NAGS) MANE Select ENSP00000293404.2:p.Ser348=
ENST00000293404.7:c.1044_1047delinsGGCC (NAGS) ENSP00000293404.2:p.Ser348=
ENST00000589767.1:c.951_954delinsGGCC (NAGS) ENSP00000465408.1:p.Ser317=
ENST00000592915.1:n.319_322delinsGGCC (NAGS)
NM_153006.2:c.1044_1047delinsGGCC (NAGS) NP_694551.1:p.Ser348=
XM_011524438.1:c.1044_1047delinsGGCC (NAGS) XP_011522740.1:p.Ser348=
XM_011524439.1:c.546_549delinsGGCC (NAGS) XP_011522741.1:p.Ser182=
XM_011525035.1:c.-463+16912_-463+16915delinsGGCC (PYY) XP_011523337.1:n.-463+16912_-463+16915delinsGGCC
XM_011524439.2:c.546_549delinsGGCC (NAGS) XP_011522741.1:p.Ser182=
NM_153006.3:c.1044_1047delinsGGCC (NAGS) MANE Select NP_694551.1:p.Ser348=