Canonical Allele Identifier: CA772225127

Linked Data

dbSNP Id: rs1411977448

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44007851del , CM000679.2:g.44007851del GRCh38
NC_000017.10:g.42085219del , CM000679.1:g.42085219del GRCh37
NC_000017.9:g.39440745del NCBI36
NG_008106.1:g.8188del
NG_023338.1:g.1620del

Transcript Alleles

HGVS Amino-acid Change
ENST00000293404.8:c.1451+78del (NAGS) MANE Select ENSP00000293404.2:n.1451+78del
ENST00000293404.7:c.1451+78del (NAGS) ENSP00000293404.2:n.1451+78del
ENST00000589767.1:c.1382+78del (NAGS) ENSP00000465408.1:n.1382+78del
ENST00000592915.1:n.1339+78del (NAGS)
NM_153006.2:c.1451+78del (NAGS) NP_694551.1:n.1451+78del
XM_011524438.1:c.1268+357del (NAGS) XP_011522740.1:n.1268+357del
XM_011524439.1:c.953+78del (NAGS) XP_011522741.1:n.953+78del
XM_011525035.1:c.-463+15722del (PYY) XP_011523337.1:n.-463+15722del
XM_011524439.2:c.953+78del (NAGS) XP_011522741.1:n.953+78del
NM_153006.3:c.1451+78del (NAGS) MANE Select NP_694551.1:n.1451+78del