Canonical Allele Identifier: CA8595308

Linked Data

dbSNP Id: rs761297600

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44006740del , CM000679.2:g.44006740del GRCh38
NC_000017.10:g.42084108del , CM000679.1:g.42084108del GRCh37
NC_000017.9:g.39439634del NCBI36
NG_008106.1:g.7077del
NG_023338.1:g.2730del

Transcript Alleles

HGVS Amino-acid Change
ENST00000293404.8:c.1096+31del (NAGS) MANE Select ENSP00000293404.2:n.1096+31del
ENST00000293404.7:c.1096+31del (NAGS) ENSP00000293404.2:n.1096+31del
ENST00000589767.1:c.1003+31del (NAGS) ENSP00000465408.1:n.1003+31del
ENST00000592915.1:n.402del (NAGS)
NM_153006.2:c.1096+31del (NAGS) NP_694551.1:n.1096+31del
XM_011524438.1:c.1096+31del (NAGS) XP_011522740.1:n.1096+31del
XM_011524439.1:c.598+31del (NAGS) XP_011522741.1:n.598+31del
XM_011525035.1:c.-463+16832del (PYY) XP_011523337.1:n.-463+16832del
XM_011524439.2:c.598+31del (NAGS) XP_011522741.1:n.598+31del
NM_153006.3:c.1096+31del (NAGS) MANE Select NP_694551.1:n.1096+31del