Canonical Allele Identifier: CA290854218

Linked Data

dbSNP Id: rs112275457

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44007984del , CM000679.2:g.44007984del GRCh38
NC_000017.10:g.42085352del , CM000679.1:g.42085352del GRCh37
NC_000017.9:g.39440878del NCBI36
NG_008106.1:g.8321del
NG_023338.1:g.1486del

Transcript Alleles

HGVS Amino-acid Change
ENST00000293404.8:c.1451+211del (NAGS) MANE Select ENSP00000293404.2:n.1451+211del
ENST00000293404.7:c.1451+211del (NAGS) ENSP00000293404.2:n.1451+211del
ENST00000589767.1:c.1382+211del (NAGS) ENSP00000465408.1:n.1382+211del
ENST00000592915.1:n.1339+211del (NAGS)
NM_153006.2:c.1451+211del (NAGS) NP_694551.1:n.1451+211del
XM_011524438.1:c.1269-464del (NAGS) XP_011522740.1:n.1269-464del
XM_011524439.1:c.953+211del (NAGS) XP_011522741.1:n.953+211del
XM_011525035.1:c.-463+15588del (PYY) XP_011523337.1:n.-463+15588del
XM_011524439.2:c.953+211del (NAGS) XP_011522741.1:n.953+211del
NM_153006.3:c.1451+211del (NAGS) MANE Select NP_694551.1:n.1451+211del