Linked Data
ClinVar Variation Id:
1623755
ClinVar RCV Id:
RCV002110296
dbSNP Id:
rs750576595
ExAC:
17:78082421 TGGC / T
gnomAD v2:
17-78082421-TGGC-T
gnomAD v3:
17-80108622-TGGC-T
gnomAD v4:
17-80108622-TGGC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.80108623_80108625del , CM000679.2:g.80108623_80108625del | GRCh38 |
| NC_000017.10:g.78082422_78082424del , CM000679.1:g.78082422_78082424del | GRCh37 |
| NC_000017.9:g.75697017_75697019del | NCBI36 |
| NG_009822.1:g.12068_12070del , LRG_673:g.12068_12070del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000570803.6:c.1194+16_1194+18del | ENSP00000460543.2:n.1194+16_1194+18del | |
| ENST00000572080.2:c.1194+16_1194+18del | ENSP00000459972.2:n.1194+16_1194+18del | |
| ENST00000577106.6:c.1194+16_1194+18del | ENSP00000458306.2:n.1194+16_1194+18del | |
| ENST00000302262.8:c.1194+16_1194+18del MANE Select | ENSP00000305692.3:n.1194+16_1194+18del | |
| ENST00000302262.7:c.1194+16_1194+18del | ENSP00000305692.3:n.1194+16_1194+18del | |
| ENST00000390015.7:c.1194+16_1194+18del | ENSP00000374665.3:n.1194+16_1194+18del | |
| NM_000152.3:c.1194+16_1194+18del , LRG_673t1:c.1194+16_1194+18del | NP_000143.2:n.1194+16_1194+18del | |
| NM_001079803.1:c.1194+16_1194+18del | NP_001073271.1:n.1194+16_1194+18del | |
| NM_001079804.1:c.1194+16_1194+18del | NP_001073272.1:n.1194+16_1194+18del | |
| XM_005257193.1:c.1194+16_1194+18del | XP_005257250.1:n.1194+16_1194+18del | |
| XM_005257194.3:c.1194+16_1194+18del | XP_005257251.1:n.1194+16_1194+18del | |
| NM_000152.4:c.1194+16_1194+18del | NP_000143.2:n.1194+16_1194+18del | |
| NM_001079803.2:c.1194+16_1194+18del | NP_001073271.1:n.1194+16_1194+18del | |
| NM_001079804.2:c.1194+16_1194+18del | NP_001073272.1:n.1194+16_1194+18del | |
| XM_005257193.2:c.1194+16_1194+18del | XP_005257250.1:n.1194+16_1194+18del | |
| XM_005257194.4:c.1194+16_1194+18del | XP_005257251.1:n.1194+16_1194+18del | |
| NM_000152.5:c.1194+16_1194+18del MANE Select | NP_000143.2:n.1194+16_1194+18del | |
| NM_001079803.3:c.1194+16_1194+18del | NP_001073271.1:n.1194+16_1194+18del | |
| NM_001079804.3:c.1194+16_1194+18del | NP_001073272.1:n.1194+16_1194+18del |