Linked Data
ClinVar Variation Id:
597563
dbSNP Id:
rs757584445
ExAC:
2:238244875 AGCG / A
gnomAD v2:
2-238244875-AGCG-A
gnomAD v4:
2-237336232-AGCG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.237336234_237336236del , CM000664.2:g.237336234_237336236del | GRCh38 |
| NC_000002.11:g.238244877_238244879del , CM000664.1:g.238244877_238244879del | GRCh37 |
| NC_000002.10:g.237909616_237909618del | NCBI36 |
| NG_008676.1:g.82973_82975del , LRG_473:g.82973_82975del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000347401.8:c.1510_1512del | ||
| ENST00000353578.9:c.8247_8249del | ENSP00000315873.4:p.Ala2750del | |
| ENST00000682957.1:c.992_994del | ||
| ENST00000684508.1:n.1132_1134del | ||
| ENST00000295550.9:c.8865_8867del MANE Select | ENSP00000295550.4:p.Ala2956del | |
| ENST00000295550.8:c.8865_8867del | ENSP00000295550.4:p.Ala2956del | |
| ENST00000347401.7:c.7041_7043del | ENSP00000315609.4:p.Ala2348del | |
| ENST00000353578.8:c.8247_8249del | ENSP00000315873.4:p.Ala2750del | |
| ENST00000409809.5:c.8247_8249del | ENSP00000386844.1:p.Ala2750del | |
| ENST00000472056.5:c.7044_7046del | ENSP00000418285.1:p.Ala2349del | |
| ENST00000491769.1:n.5307_5309del | ||
| NM_004369.3:c.8865_8867del , LRG_473t1:c.8865_8867del | NP_004360.2:p.Ala2956del | |
| NM_057166.4:c.7044_7046del | NP_476507.3:p.Ala2349del | |
| NM_057167.3:c.8247_8249del | NP_476508.2:p.Ala2750del | |
| XM_005246065.1:c.8265_8267del | XP_005246122.1:p.Ala2756del | |
| XM_005246066.1:c.7644_7646del | XP_005246123.1:p.Ala2549del | |
| XM_006712253.1:c.8364_8366del | XP_006712316.1:p.Ala2789del | |
| XM_011510574.1:c.8862_8864del | XP_011508876.1:p.Ala2955del | |
| XM_011510575.1:c.6459_6461del | XP_011508877.1:p.Ala2154del | |
| XM_017003304.1:c.6459_6461del | XP_016858793.1:p.Ala2154del | |
| XM_024452684.1:c.7644_7646del | XP_024308452.1:p.Ala2549del | |
| NM_004369.4:c.8865_8867del MANE Select | NP_004360.2:p.Ala2956del | |
| NM_057166.5:c.7044_7046del | NP_476507.3:p.Ala2349del | |
| NM_057167.4:c.8247_8249del | NP_476508.2:p.Ala2750del |