Linked Data
dbSNP Id:
rs886043343
gnomAD v2:
17-78092008-CCA-C
gnomAD v4:
17-80118209-CCA-C
MyVariant Identifiers:
chr17:g.78092011_78092012del (hg19)
chr17:g.78092009_78092010del (hg19)
chr17:g.80118212_80118213del (hg38)
ERepo:
CA10605404/MONDO:0009290/010
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.80118212_80118213del , CM000679.2:g.80118212_80118213del | GRCh38 |
| NC_000017.10:g.78092011_78092012del , CM000679.1:g.78092011_78092012del | GRCh37 |
| NC_000017.9:g.75706606_75706607del | NCBI36 |
| NG_009822.1:g.21657_21658del , LRG_673:g.21657_21658del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000570803.6:c.2501_2502del | ENSP00000460543.2:p.Thr834ArgfsTer? | |
| ENST00000572080.2:c.*639_*640del | ENSP00000459972.2:n.*639_*640del | |
| ENST00000577106.6:c.2501_2502del | ENSP00000458306.2:p.Thr834ArgfsTer? | |
| ENST00000302262.8:c.2501_2502del MANE Select | ENSP00000305692.3:p.Thr834ArgfsTer? | |
| ENST00000302262.7:c.2501_2502del | ENSP00000305692.3:p.Thr834ArgfsTer? | |
| ENST00000390015.7:c.2501_2502del | ENSP00000374665.3:p.Thr834ArgfsTer? | |
| ENST00000573556.1:n.454_455del | ||
| NM_000152.3:c.2501_2502del , LRG_673t1:c.2501_2502del | NP_000143.2:p.Thr834ArgfsTer? | |
| NM_001079803.1:c.2501_2502del | NP_001073271.1:p.Thr834ArgfsTer? | |
| NM_001079804.1:c.2501_2502del | NP_001073272.1:p.Thr834ArgfsTer? | |
| XM_005257193.1:c.2501_2502del | XP_005257250.1:p.Thr834ArgfsTer? | |
| XM_005257194.3:c.2501_2502del | XP_005257251.1:p.Thr834ArgfsTer? | |
| NM_000152.4:c.2501_2502del | NP_000143.2:p.Thr834ArgfsTer? | |
| NM_001079803.2:c.2501_2502del | NP_001073271.1:p.Thr834ArgfsTer? | |
| NM_001079804.2:c.2501_2502del | NP_001073272.1:p.Thr834ArgfsTer? | |
| XM_005257193.2:c.2501_2502del | XP_005257250.1:p.Thr834ArgfsTer? | |
| XM_005257194.4:c.2501_2502del | XP_005257251.1:p.Thr834ArgfsTer? | |
| NM_000152.5:c.2501_2502del MANE Select | NP_000143.2:p.Thr834ArgfsTer? | |
| NM_001079803.3:c.2501_2502del | NP_001073271.1:p.Thr834ArgfsTer? | |
| NM_001079804.3:c.2501_2502del | NP_001073272.1:p.Thr834ArgfsTer? |