Linked Data
ClinVar Variation Id:
1617003
dbSNP Id:
rs765275434
gnomAD v2:
20-4680088-GCAGCCCCATGGTGGTGGCTGGGGA-G
gnomAD v3:
20-4699442-GCAGCCCCATGGTGGTGGCTGGGGA-G
gnomAD v4:
20-4699442-GCAGCCCCATGGTGGTGGCTGGGGA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.4699448_4699471del , CM000682.2:g.4699448_4699471del | GRCh38 |
| NC_000020.10:g.4680094_4680117del , CM000682.1:g.4680094_4680117del | GRCh37 |
| NC_000020.9:g.4628094_4628117del | NCBI36 |
| NG_009087.1:g.18298_18321del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379440.9:c.228_251del MANE Select | ENSP00000368752.4:p.His77_Pro84del | |
| ENST00000424424.2:c.228_251del | ENSP00000411599.2:p.His77_Pro84del | |
| ENST00000457586.2:c.228_251del | ENSP00000415284.2:p.His77_Pro84del | |
| ENST00000379440.8:c.228_251del | ENSP00000368752.4:p.His77_Pro84del | |
| ENST00000424424.1:c.228_251del | ENSP00000411599.1:p.His77_Pro84del | |
| ENST00000430350.2:c.228_251del | ENSP00000399376.2:p.His77_Pro84del | |
| ENST00000457586.1:c.228_251del | ENSP00000415284.1:p.His77_Pro84del | |
| NM_000311.3:c.228_251del | NP_000302.1:p.His77_Pro84del | |
| NM_001080121.1:c.228_251del | NP_001073590.1:p.His77_Pro84del | |
| NM_001080122.1:c.228_251del | NP_001073591.1:p.His77_Pro84del | |
| NM_001080123.1:c.228_251del | NP_001073592.1:p.His77_Pro84del | |
| NM_001271561.1:c.139_162del | NP_001258490.1:p.Pro47_Ala54del | |
| NM_183079.2:c.228_251del | NP_898902.1:p.His77_Pro84del | |
| NM_000311.4:c.228_251del | NP_000302.1:p.His77_Pro84del | |
| NM_001080121.2:c.228_251del | NP_001073590.1:p.His77_Pro84del | |
| NM_001080122.2:c.228_251del | NP_001073591.1:p.His77_Pro84del | |
| NM_001080123.2:c.228_251del | NP_001073592.1:p.His77_Pro84del | |
| NM_001271561.2:c.139_162del | NP_001258490.1:p.Pro47_Ala54del | |
| NM_183079.3:c.228_251del | NP_898902.1:p.His77_Pro84del | |
| NM_000311.5:c.228_251del MANE Select | NP_000302.1:p.His77_Pro84del | |
| NM_001080121.3:c.228_251del | NP_001073590.1:p.His77_Pro84del | |
| NM_001080122.3:c.228_251del | NP_001073591.1:p.His77_Pro84del | |
| NM_001080123.3:c.228_251del | NP_001073592.1:p.His77_Pro84del | |
| NM_001271561.3:c.139_162del | NP_001258490.1:p.Pro47_Ala54del | |
| NM_183079.4:c.228_251del | NP_898902.1:p.His77_Pro84del |