Canonical Allele Identifier: CA2261182084

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44006355_44006356delinsTA , CM000679.2:g.44006355_44006356delinsTA GRCh38
NC_000017.10:g.42083723_42083724delinsTA , CM000679.1:g.42083723_42083724delinsTA GRCh37
NC_000017.9:g.39439249_39439250delinsTA NCBI36
NG_008106.1:g.6692_6693delinsTA
NG_023338.1:g.3114_3115delinsTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000293404.8:c.915+118_915+119delinsTA (NAGS) MANE Select ENSP00000293404.2:n.915+118_915+119delinsTA
ENST00000293404.7:c.915+118_915+119delinsTA (NAGS) ENSP00000293404.2:n.915+118_915+119delinsTA
ENST00000589767.1:c.822+118_822+119delinsTA (NAGS) ENSP00000465408.1:n.822+118_822+119delinsTA
ENST00000592915.1:n.190+118_190+119delinsTA (NAGS)
NM_153006.2:c.915+118_915+119delinsTA (NAGS) NP_694551.1:n.915+118_915+119delinsTA
XM_011524438.1:c.915+118_915+119delinsTA (NAGS) XP_011522740.1:n.915+118_915+119delinsTA
XM_011524439.1:c.417+118_417+119delinsTA (NAGS) XP_011522741.1:n.417+118_417+119delinsTA
XM_011525035.1:c.-463+17216_-463+17217delinsTA (PYY) XP_011523337.1:n.-463+17216_-463+17217delinsTA
XM_011524439.2:c.417+118_417+119delinsTA (NAGS) XP_011522741.1:n.417+118_417+119delinsTA
NM_153006.3:c.915+118_915+119delinsTA (NAGS) MANE Select NP_694551.1:n.915+118_915+119delinsTA