Linked Data
dbSNP Id:
rs1469581472
gnomAD v2:
1-11170960-AGTTC-A
gnomAD v3:
1-11110903-AGTTC-A
gnomAD v4:
1-11110903-AGTTC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11110904_11110907del , CM000663.2:g.11110904_11110907del | GRCh38 |
| NC_000001.10:g.11170961_11170964del , CM000663.1:g.11170961_11170964del | GRCh37 |
| NC_000001.9:g.11093548_11093551del | NCBI36 |
| NG_033239.1:g.156645_156648del , LRG_734:g.156645_156648del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703118.1:c.*2742-1178_*2742-1175del | ENSP00000515181.1:n.*2742-1178_*2742-1175del | |
| ENST00000703131.1:n.3285-1178_3285-1175del | ||
| ENST00000703139.1:c.2155-1178_2155-1175del | ||
| ENST00000703140.1:c.7154-1178_7154-1175del | ENSP00000515197.1:n.7154-1178_7154-1175del | |
| ENST00000703141.1:c.*2884-1178_*2884-1175del | ENSP00000515198.1:n.*2884-1178_*2884-1175del | |
| ENST00000703142.1:c.*4197-1178_*4197-1175del | ENSP00000515199.1:n.*4197-1178_*4197-1175del | |
| ENST00000361445.9:c.7367-1178_7367-1175del MANE Select | ENSP00000354558.4:n.7367-1178_7367-1175del | |
| ENST00000361445.8:c.7367-1178_7367-1175del | ENSP00000354558.4:n.7367-1178_7367-1175del | |
| ENST00000376838.5:c.1982-1178_1982-1175del | ENSP00000366034.1:n.1982-1178_1982-1175del | |
| ENST00000455339.1:c.335-1178_335-1175del | ENSP00000398745.1:n.335-1178_335-1175del | |
| ENST00000473471.5:n.379-1178_379-1175del | ||
| ENST00000490931.1:n.649+607_649+610del | ||
| NM_004958.3:c.7367-1178_7367-1175del , LRG_734t1:c.7367-1178_7367-1175del | NP_004949.1:n.7367-1178_7367-1175del | |
| XM_005263438.1:c.7367-1178_7367-1175del | XP_005263495.1:n.7367-1178_7367-1175del | |
| XM_005263438.2:c.7367-1178_7367-1175del | XP_005263495.1:n.7367-1178_7367-1175del | |
| XM_017000900.1:c.6686-1178_6686-1175del | XP_016856389.1:n.6686-1178_6686-1175del | |
| XM_017000901.1:c.6119-1178_6119-1175del | XP_016856390.1:n.6119-1178_6119-1175del | |
| XM_024446187.1:c.7367-1178_7367-1175del | XP_024301955.1:n.7367-1178_7367-1175del | |
| XR_001737087.1:n.7405-1178_7405-1175del | ||
| NM_004958.4:c.7367-1178_7367-1175del MANE Select | NP_004949.1:n.7367-1178_7367-1175del | |
| NM_001386500.1:c.7367-1178_7367-1175del | NP_001373429.1:n.7367-1178_7367-1175del | |
| NM_001386501.1:c.6119-1178_6119-1175del | NP_001373430.1:n.6119-1178_6119-1175del |