Canonical Allele Identifier: CA2576286611

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44007808_44007809del , CM000679.2:g.44007808_44007809del GRCh38
NC_000017.10:g.42085176_42085177del , CM000679.1:g.42085176_42085177del GRCh37
NC_000017.9:g.39440702_39440703del NCBI36
NG_008106.1:g.8145_8146del
NG_023338.1:g.1661_1662del

Transcript Alleles

HGVS Amino-acid Change
ENST00000293404.8:c.1451+35_1451+36del (NAGS) MANE Select ENSP00000293404.2:n.1451+35_1451+36del
ENST00000293404.7:c.1451+35_1451+36del (NAGS) ENSP00000293404.2:n.1451+35_1451+36del
ENST00000589767.1:c.1382+35_1382+36del (NAGS) ENSP00000465408.1:n.1382+35_1382+36del
ENST00000592915.1:n.1339+35_1339+36del (NAGS)
NM_153006.2:c.1451+35_1451+36del (NAGS) NP_694551.1:n.1451+35_1451+36del
XM_011524438.1:c.1268+314_1268+315del (NAGS) XP_011522740.1:n.1268+314_1268+315del
XM_011524439.1:c.953+35_953+36del (NAGS) XP_011522741.1:n.953+35_953+36del
XM_011525035.1:c.-463+15763_-463+15764del (PYY) XP_011523337.1:n.-463+15763_-463+15764del
XM_011524439.2:c.953+35_953+36del (NAGS) XP_011522741.1:n.953+35_953+36del
NM_153006.3:c.1451+35_1451+36del (NAGS) MANE Select NP_694551.1:n.1451+35_1451+36del