Canonical Allele Identifier: CA919846254

Linked Data

dbSNP Id: rs1597866795

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44007979_44007981del , CM000679.2:g.44007979_44007981del GRCh38
NC_000017.10:g.42085347_42085349del , CM000679.1:g.42085347_42085349del GRCh37
NC_000017.9:g.39440873_39440875del NCBI36
NG_008106.1:g.8316_8318del
NG_023338.1:g.1492_1494del

Transcript Alleles

HGVS Amino-acid Change
ENST00000293404.8:c.1451+206_1451+208del (NAGS) MANE Select ENSP00000293404.2:n.1451+206_1451+208del
ENST00000293404.7:c.1451+206_1451+208del (NAGS) ENSP00000293404.2:n.1451+206_1451+208del
ENST00000589767.1:c.1382+206_1382+208del (NAGS) ENSP00000465408.1:n.1382+206_1382+208del
ENST00000592915.1:n.1339+206_1339+208del (NAGS)
NM_153006.2:c.1451+206_1451+208del (NAGS) NP_694551.1:n.1451+206_1451+208del
XM_011524438.1:c.1269-469_1269-467del (NAGS) XP_011522740.1:n.1269-469_1269-467del
XM_011524439.1:c.953+206_953+208del (NAGS) XP_011522741.1:n.953+206_953+208del
XM_011525035.1:c.-463+15594_-463+15596del (PYY) XP_011523337.1:n.-463+15594_-463+15596del
XM_011524439.2:c.953+206_953+208del (NAGS) XP_011522741.1:n.953+206_953+208del
NM_153006.3:c.1451+206_1451+208del (NAGS) MANE Select NP_694551.1:n.1451+206_1451+208del