Canonical Allele Identifier: CA2261182918

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44007849_44007850delinsGA , CM000679.2:g.44007849_44007850delinsGA GRCh38
NC_000017.10:g.42085217_42085218delinsGA , CM000679.1:g.42085217_42085218delinsGA GRCh37
NC_000017.9:g.39440743_39440744delinsGA NCBI36
NG_008106.1:g.8186_8187delinsGA
NG_023338.1:g.1620_1621delinsTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000293404.8:c.1451+76_1451+77delinsGA (NAGS) MANE Select ENSP00000293404.2:n.1451+76_1451+77delinsGA
ENST00000293404.7:c.1451+76_1451+77delinsGA (NAGS) ENSP00000293404.2:n.1451+76_1451+77delinsGA
ENST00000589767.1:c.1382+76_1382+77delinsGA (NAGS) ENSP00000465408.1:n.1382+76_1382+77delinsGA
ENST00000592915.1:n.1339+76_1339+77delinsGA (NAGS)
NM_153006.2:c.1451+76_1451+77delinsGA (NAGS) NP_694551.1:n.1451+76_1451+77delinsGA
XM_011524438.1:c.1268+355_1268+356delinsGA (NAGS) XP_011522740.1:n.1268+355_1268+356delinsGA
XM_011524439.1:c.953+76_953+77delinsGA (NAGS) XP_011522741.1:n.953+76_953+77delinsGA
XM_011525035.1:c.-463+15722_-463+15723delinsTC (PYY) XP_011523337.1:n.-463+15722_-463+15723delinsTC
XM_011524439.2:c.953+76_953+77delinsGA (NAGS) XP_011522741.1:n.953+76_953+77delinsGA
NM_153006.3:c.1451+76_1451+77delinsGA (NAGS) MANE Select NP_694551.1:n.1451+76_1451+77delinsGA