Linked Data
ClinVar Variation Id:
6081
dbSNP Id:
rs71785313
ExAC:
22:36662041 AATAATT / A
gnomAD v2:
22-36662041-AATAATT-A
gnomAD v3:
22-36265995-AATAATT-A
gnomAD v4:
22-36265995-AATAATT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.36266000_36266005del , CM000684.2:g.36266000_36266005del | GRCh38 |
| NC_000022.10:g.36662046_36662051del , CM000684.1:g.36662046_36662051del | GRCh37 |
| NC_000022.9:g.34991992_34991997del | NCBI36 |
| NG_023228.1:g.17930_17935del , LRG_169:g.17930_17935del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000427990.6:c.1164_1169del | ENSP00000391302.2:p.Asn388_Tyr389del | |
| ENST00000433768.6:c.*926_*931del | ENSP00000392514.1:n.*926_*931del | |
| ENST00000438034.6:c.1251_1256del | ENSP00000404525.2:p.Asn417_Tyr418del | |
| ENST00000397278.8:c.1164_1169del MANE Select | ENSP00000380448.4:p.Asn388_Tyr389del | |
| ENST00000319136.8:c.1212_1217del | ENSP00000317674.4:p.Asn404_Tyr405del | |
| ENST00000397278.7:c.1164_1169del | ENSP00000380448.3:p.Asn388_Tyr389del | |
| ENST00000397279.8:c.1164_1169del | ENSP00000380449.4:p.Asn388_Tyr389del | |
| ENST00000422706.5:c.1164_1169del | ENSP00000411507.1:p.Asn388_Tyr389del | |
| ENST00000426053.5:c.1110_1115del | ENSP00000388477.1:p.Asn370_Tyr371del | |
| NM_001136540.1:c.1164_1169del | NP_001130012.1:p.Asn388_Tyr389del | |
| NM_001136541.1:c.1110_1115del | NP_001130013.1:p.Asn370_Tyr371del | |
| NM_003661.3:c.1164_1169del | NP_003652.2:p.Asn388_Tyr389del | |
| NM_145343.2:c.1212_1217del , LRG_169t1:c.1212_1217del | NP_663318.1:p.Asn404_Tyr405del | |
| XM_005261796.2:c.1110_1115del | XP_005261853.1:p.Asn370_Tyr371del | |
| XM_011530478.1:c.801_806del | XP_011528780.1:p.Asn267_Tyr268del | |
| NM_001362927.1:c.1110_1115del | NP_001349856.1:p.Asn370_Tyr371del | |
| XM_011530478.2:c.801_806del | XP_011528780.1:p.Asn267_Tyr268del | |
| NM_001362927.2:c.1110_1115del | NP_001349856.1:p.Asn370_Tyr371del | |
| NM_003661.4:c.1164_1169del MANE Select | NP_003652.2:p.Asn388_Tyr389del | |
| NM_001136540.2:c.1164_1169del | NP_001130012.1:p.Asn388_Tyr389del | |
| NM_001136541.2:c.1110_1115del | NP_001130013.1:p.Asn370_Tyr371del | |
| NM_145343.3:c.1212_1217del | NP_663318.1:p.Asn404_Tyr405del |