Linked Data
dbSNP Id:
rs754310762
ExAC:
1:103412515 AGT / A
gnomAD v2:
1-103412515-AGT-A
gnomAD v4:
1-102946959-AGT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.102946960_102946961del , CM000663.2:g.102946960_102946961del | GRCh38 |
| NC_000001.10:g.103412516_103412517del , CM000663.1:g.103412516_103412517del | GRCh37 |
| NC_000001.9:g.103185104_103185105del | NCBI36 |
| NG_008033.1:g.166536_166537del | |
| NG_008033.2:g.166536_166537del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370096.9:c.3169-5_3169-4del MANE Select | ENSP00000359114.3:n.3169-5_3169-4del | |
| ENST00000353414.8:c.3052-5_3052-4del | ENSP00000302551.6:n.3052-5_3052-4del | |
| ENST00000358392.6:c.3205-5_3205-4del | ENSP00000351163.2:n.3205-5_3205-4del | |
| ENST00000370096.7:c.3169-5_3169-4del | ENSP00000359114.3:n.3169-5_3169-4del | |
| ENST00000512756.5:c.2821-5_2821-4del | ENSP00000426533.1:n.2821-5_2821-4del | |
| ENST00000635193.1:c.2503-5_2503-4del | ||
| NM_001190709.1:c.3052-5_3052-4del | NP_001177638.1:n.3052-5_3052-4del | |
| NM_001854.3:c.3169-5_3169-4del | NP_001845.3:n.3169-5_3169-4del | |
| NM_080629.2:c.3205-5_3205-4del | NP_542196.2:n.3205-5_3205-4del | |
| NM_080630.3:c.2821-5_2821-4del | NP_542197.3:n.2821-5_2821-4del | |
| XM_011540719.1:c.3169-5_3169-4del | XP_011539021.1:n.3169-5_3169-4del | |
| XM_011540720.1:c.1402-5_1402-4del | XP_011539022.1:n.1402-5_1402-4del | |
| XM_011540721.1:c.757-5_757-4del | XP_011539023.1:n.757-5_757-4del | |
| NR_134980.1:n.3503-5_3503-4del | ||
| XM_017000334.1:c.3322-5_3322-4del | XP_016855823.1:n.3322-5_3322-4del | |
| XM_017000335.1:c.3316-5_3316-4del | XP_016855824.1:n.3316-5_3316-4del | |
| XM_017000336.1:c.3322-5_3322-4del | XP_016855825.1:n.3322-5_3322-4del | |
| XM_017000337.1:c.1720-5_1720-4del | XP_016855826.1:n.1720-5_1720-4del | |
| NM_001854.4:c.3169-5_3169-4del MANE Select | NP_001845.3:n.3169-5_3169-4del | |
| NM_080630.4:c.2821-5_2821-4del | NP_542197.3:n.2821-5_2821-4del | |
| NR_134980.2:n.3529-5_3529-4del | ||
| NM_001190709.2:c.3052-5_3052-4del | NP_001177638.1:n.3052-5_3052-4del | |
| NM_080629.3:c.3205-5_3205-4del | NP_542196.2:n.3205-5_3205-4del |