Canonical Allele Identifier: CA2261182269

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44006725_44006756delinsGGGCCGGGGACTGGGTCCCGGGAGTGAGTACT , CM000679.2:g.44006725_44006756delinsGGGCCGGGGACTGGGTCCCGGGAGTGAGTACT GRCh38
NC_000017.10:g.42084093_42084124delinsGGGCCGGGGACTGGGTCCCGGGAGTGAGTACT , CM000679.1:g.42084093_42084124delinsGGGCCGGGGACTGGGTCCCGGGAGTGAGTACT GRCh37
NC_000017.9:g.39439619_39439650delinsGGGCCGGGGACTGGGTCCCGGGAGTGAGTACT NCBI36
NG_008106.1:g.7062_7093delinsGGGCCGGGGACTGGGTCCCGGGAGTGAGTACT
NG_023338.1:g.2714_2745delinsAGTACTCACTCCCGGGACCCAGTCCCCGGCCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000293404.8:c.1096+16_1096+47delinsGGGCCGGGGACTGGGTCCCGGGAGTGAGTACT (NAGS) MANE Select ENSP00000293404.2:n.1096+16_1096+47delinsGGGCCGGGGACTGGGTCCCG...
ENST00000293404.7:c.1096+16_1096+47delinsGGGCCGGGGACTGGGTCCCGGGAGTGAGTACT (NAGS) ENSP00000293404.2:n.1096+16_1096+47delinsGGGCCGGGGACTGGGTCCCG...
ENST00000589767.1:c.1003+16_1003+47delinsGGGCCGGGGACTGGGTCCCGGGAGTGAGTACT (NAGS) ENSP00000465408.1:n.1003+16_1003+47delinsGGGCCGGGGACTGGGTCCCG...
ENST00000592915.1:n.387_418delinsGGGCCGGGGACTGGGTCCCGGGAGTGAGTACT (NAGS)
NM_153006.2:c.1096+16_1096+47delinsGGGCCGGGGACTGGGTCCCGGGAGTGAGTACT (NAGS) NP_694551.1:n.1096+16_1096+47delinsGGGCCGGGGACTGGGTCCCGGGAGTG...
XM_011524438.1:c.1096+16_1096+47delinsGGGCCGGGGACTGGGTCCCGGGAGTGAGTACT (NAGS) XP_011522740.1:n.1096+16_1096+47delinsGGGCCGGGGACTGGGTCCCGGGA...
XM_011524439.1:c.598+16_598+47delinsGGGCCGGGGACTGGGTCCCGGGAGTGAGTACT (NAGS) XP_011522741.1:n.598+16_598+47delinsGGGCCGGGGACTGGGTCCCGGGAGT...
XM_011525035.1:c.-463+16816_-463+16847delinsAGTACTCACTCCCGGGACCCAGTCCCCGGCCC (PYY) XP_011523337.1:n.-463+16816_-463+16847delinsAGTACTCACTCCCGGGA...
XM_011524439.2:c.598+16_598+47delinsGGGCCGGGGACTGGGTCCCGGGAGTGAGTACT (NAGS) XP_011522741.1:n.598+16_598+47delinsGGGCCGGGGACTGGGTCCCGGGAGT...
NM_153006.3:c.1096+16_1096+47delinsGGGCCGGGGACTGGGTCCCGGGAGTGAGTACT (NAGS) MANE Select NP_694551.1:n.1096+16_1096+47delinsGGGCCGGGGACTGGGTCCCGGGAGTG...