Canonical Allele Identifier: CA2638146874

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44006472_44006473insCCGTGGGGGC , CM000679.2:g.44006472_44006473insCCGTGGGGGC GRCh38
NC_000017.10:g.42083840_42083841insCCGTGGGGGC , CM000679.1:g.42083840_42083841insCCGTGGGGGC GRCh37
NC_000017.9:g.39439366_39439367insCCGTGGGGGC NCBI36
NG_008106.1:g.6809_6810insCCGTGGGGGC
NG_023338.1:g.2997_2998insGCCCCCACGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000293404.8:c.916-57_916-56insCCGTGGGGGC (NAGS) MANE Select ENSP00000293404.2:n.916-57_916-56insCCGTGGGGGC
ENST00000293404.7:c.916-57_916-56insCCGTGGGGGC (NAGS) ENSP00000293404.2:n.916-57_916-56insCCGTGGGGGC
ENST00000589767.1:c.823-57_823-56insCCGTGGGGGC (NAGS) ENSP00000465408.1:n.823-57_823-56insCCGTGGGGGC
ENST00000592915.1:n.191-57_191-56insCCGTGGGGGC (NAGS)
NM_153006.2:c.916-57_916-56insCCGTGGGGGC (NAGS) NP_694551.1:n.916-57_916-56insCCGTGGGGGC
XM_011524438.1:c.916-57_916-56insCCGTGGGGGC (NAGS) XP_011522740.1:n.916-57_916-56insCCGTGGGGGC
XM_011524439.1:c.418-57_418-56insCCGTGGGGGC (NAGS) XP_011522741.1:n.418-57_418-56insCCGTGGGGGC
XM_011525035.1:c.-463+17099_-463+17100insGCCCCCACGG (PYY) XP_011523337.1:n.-463+17099_-463+17100insGCCCCCACGG
XM_011524439.2:c.418-57_418-56insCCGTGGGGGC (NAGS) XP_011522741.1:n.418-57_418-56insCCGTGGGGGC
NM_153006.3:c.916-57_916-56insCCGTGGGGGC (NAGS) MANE Select NP_694551.1:n.916-57_916-56insCCGTGGGGGC