Canonical Allele Identifier: CA2261182022

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44006236_44006241delinsAGGTGC , CM000679.2:g.44006236_44006241delinsAGGTGC GRCh38
NC_000017.10:g.42083604_42083609delinsAGGTGC , CM000679.1:g.42083604_42083609delinsAGGTGC GRCh37
NC_000017.9:g.39439130_39439135delinsAGGTGC NCBI36
NG_008106.1:g.6573_6578delinsAGGTGC
NG_023338.1:g.3229_3234delinsGCACCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000293404.8:c.914_915+4delinsAGGTGC (NAGS)
ENST00000293404.7:c.914_915+4delinsAGGTGC (NAGS)
ENST00000589767.1:c.821_822+4delinsAGGTGC (NAGS)
ENST00000592915.1:n.189_190+4delinsAGGTGC (NAGS)
NM_153006.2:c.914_915+4delinsAGGTGC (NAGS)
XM_011524438.1:c.914_915+4delinsAGGTGC (NAGS)
XM_011524439.1:c.416_417+4delinsAGGTGC (NAGS)
XM_011525035.1:c.-463+17331_-463+17336delinsGCACCT (PYY) XP_011523337.1:n.-463+17331_-463+17336delinsGCACCT
XM_011524439.2:c.416_417+4delinsAGGTGC (NAGS)
NM_153006.3:c.914_915+4delinsAGGTGC (NAGS)