Canonical Allele Identifier: CA2507695024

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44007790_44007791del , CM000679.2:g.44007790_44007791del GRCh38
NC_000017.10:g.42085158_42085159del , CM000679.1:g.42085158_42085159del GRCh37
NC_000017.9:g.39440684_39440685del NCBI36
NG_008106.1:g.8127_8128del
NG_023338.1:g.1680_1681del

Transcript Alleles

HGVS Amino-acid Change
ENST00000293404.8:c.1451+17_1451+18del (NAGS) MANE Select ENSP00000293404.2:n.1451+17_1451+18del
ENST00000293404.7:c.1451+17_1451+18del (NAGS) ENSP00000293404.2:n.1451+17_1451+18del
ENST00000589767.1:c.1382+17_1382+18del (NAGS) ENSP00000465408.1:n.1382+17_1382+18del
ENST00000592915.1:n.1339+17_1339+18del (NAGS)
NM_153006.2:c.1451+17_1451+18del (NAGS) NP_694551.1:n.1451+17_1451+18del
XM_011524438.1:c.1268+296_1268+297del (NAGS) XP_011522740.1:n.1268+296_1268+297del
XM_011524439.1:c.953+17_953+18del (NAGS) XP_011522741.1:n.953+17_953+18del
XM_011525035.1:c.-463+15782_-463+15783del (PYY) XP_011523337.1:n.-463+15782_-463+15783del
XM_011524439.2:c.953+17_953+18del (NAGS) XP_011522741.1:n.953+17_953+18del
NM_153006.3:c.1451+17_1451+18del (NAGS) MANE Select NP_694551.1:n.1451+17_1451+18del