Canonical Allele Identifier: CA2638146993

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44007805_44007806insAGTG , CM000679.2:g.44007805_44007806insAGTG GRCh38
NC_000017.10:g.42085173_42085174insAGTG , CM000679.1:g.42085173_42085174insAGTG GRCh37
NC_000017.9:g.39440699_39440700insAGTG NCBI36
NG_008106.1:g.8142_8143insAGTG
NG_023338.1:g.1665_1666insACTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000293404.8:c.1451+32_1451+33insAGTG (NAGS) MANE Select ENSP00000293404.2:n.1451+32_1451+33insAGTG
ENST00000293404.7:c.1451+32_1451+33insAGTG (NAGS) ENSP00000293404.2:n.1451+32_1451+33insAGTG
ENST00000589767.1:c.1382+32_1382+33insAGTG (NAGS) ENSP00000465408.1:n.1382+32_1382+33insAGTG
ENST00000592915.1:n.1339+32_1339+33insAGTG (NAGS)
NM_153006.2:c.1451+32_1451+33insAGTG (NAGS) NP_694551.1:n.1451+32_1451+33insAGTG
XM_011524438.1:c.1268+311_1268+312insAGTG (NAGS) XP_011522740.1:n.1268+311_1268+312insAGTG
XM_011524439.1:c.953+32_953+33insAGTG (NAGS) XP_011522741.1:n.953+32_953+33insAGTG
XM_011525035.1:c.-463+15767_-463+15768insACTC (PYY) XP_011523337.1:n.-463+15767_-463+15768insACTC
XM_011524439.2:c.953+32_953+33insAGTG (NAGS) XP_011522741.1:n.953+32_953+33insAGTG
NM_153006.3:c.1451+32_1451+33insAGTG (NAGS) MANE Select NP_694551.1:n.1451+32_1451+33insAGTG