Linked Data
dbSNP Id:
rs757950230
ExAC:
1:103412544 TAAAG / T
gnomAD v2:
1-103412544-TAAAG-T
gnomAD v4:
1-102946988-TAAAG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.102946993_102946996del , CM000663.2:g.102946993_102946996del | GRCh38 |
| NC_000001.10:g.103412549_103412552del , CM000663.1:g.103412549_103412552del | GRCh37 |
| NC_000001.9:g.103185137_103185140del | NCBI36 |
| NG_008033.1:g.166505_166508del | |
| NG_008033.2:g.166505_166508del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370096.9:c.3169-36_3169-33del MANE Select | ENSP00000359114.3:n.3169-36_3169-33del | |
| ENST00000353414.8:c.3052-36_3052-33del | ENSP00000302551.6:n.3052-36_3052-33del | |
| ENST00000358392.6:c.3205-36_3205-33del | ENSP00000351163.2:n.3205-36_3205-33del | |
| ENST00000370096.7:c.3169-36_3169-33del | ENSP00000359114.3:n.3169-36_3169-33del | |
| ENST00000512756.5:c.2821-36_2821-33del | ENSP00000426533.1:n.2821-36_2821-33del | |
| ENST00000635193.1:c.2503-36_2503-33del | ||
| NM_001190709.1:c.3052-36_3052-33del | NP_001177638.1:n.3052-36_3052-33del | |
| NM_001854.3:c.3169-36_3169-33del | NP_001845.3:n.3169-36_3169-33del | |
| NM_080629.2:c.3205-36_3205-33del | NP_542196.2:n.3205-36_3205-33del | |
| NM_080630.3:c.2821-36_2821-33del | NP_542197.3:n.2821-36_2821-33del | |
| XM_011540719.1:c.3169-36_3169-33del | XP_011539021.1:n.3169-36_3169-33del | |
| XM_011540720.1:c.1402-36_1402-33del | XP_011539022.1:n.1402-36_1402-33del | |
| XM_011540721.1:c.757-36_757-33del | XP_011539023.1:n.757-36_757-33del | |
| NR_134980.1:n.3503-36_3503-33del | ||
| XM_017000334.1:c.3322-36_3322-33del | XP_016855823.1:n.3322-36_3322-33del | |
| XM_017000335.1:c.3316-36_3316-33del | XP_016855824.1:n.3316-36_3316-33del | |
| XM_017000336.1:c.3322-36_3322-33del | XP_016855825.1:n.3322-36_3322-33del | |
| XM_017000337.1:c.1720-36_1720-33del | XP_016855826.1:n.1720-36_1720-33del | |
| NM_001854.4:c.3169-36_3169-33del MANE Select | NP_001845.3:n.3169-36_3169-33del | |
| NM_080630.4:c.2821-36_2821-33del | NP_542197.3:n.2821-36_2821-33del | |
| NR_134980.2:n.3529-36_3529-33del | ||
| NM_001190709.2:c.3052-36_3052-33del | NP_001177638.1:n.3052-36_3052-33del | |
| NM_080629.3:c.3205-36_3205-33del | NP_542196.2:n.3205-36_3205-33del |