Linked Data
dbSNP Id:
rs1226385793
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44007772_44007782del , CM000679.2:g.44007772_44007782del | GRCh38 |
| NC_000017.10:g.42085140_42085150del , CM000679.1:g.42085140_42085150del | GRCh37 |
| NC_000017.9:g.39440666_39440676del | NCBI36 |
| NG_008106.1:g.8109_8119del | |
| NG_023338.1:g.1688_1698del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000293404.8:c.1450_1451+9del (NAGS) | ||
| ENST00000293404.7:c.1450_1451+9del (NAGS) | ||
| ENST00000589767.1:c.1381_1382+9del (NAGS) | ||
| ENST00000592915.1:n.1338_1339+9del (NAGS) | ||
| NM_153006.2:c.1450_1451+9del (NAGS) | ||
| XM_011524438.1:c.1268+278_1268+288del (NAGS) | XP_011522740.1:n.1268+278_1268+288del | |
| XM_011524439.1:c.952_953+9del (NAGS) | ||
| XM_011525035.1:c.-463+15790_-463+15800del (PYY) | XP_011523337.1:n.-463+15790_-463+15800del | |
| XM_011524439.2:c.952_953+9del (NAGS) | ||
| NM_153006.3:c.1450_1451+9del (NAGS) |