Linked Data
dbSNP Id:
rs746450218
ExAC:
11:67257769 CT / C
gnomAD v2:
11-67257769-CT-C
gnomAD v4:
11-67490298-CT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67490299del , CM000673.2:g.67490299del | GRCh38 |
| NC_000011.9:g.67257770del , CM000673.1:g.67257770del | GRCh37 |
| NC_000011.8:g.67014346del | NCBI36 |
| NG_008969.1:g.12266del , LRG_460:g.12266del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000525341.2:c.623-17del (AIP) | ||
| ENST00000528641.7:c.457-17del (AIP) | ENSP00000434982.3:n.457-17del | |
| ENST00000529797.2:n.1158-17del (AIP) | ||
| ENST00000682324.1:c.469-698del (AIP) | ENSP00000508017.1:n.469-698del | |
| ENST00000682659.1:c.277-17del (AIP) | ENSP00000507351.1:n.277-17del | |
| ENST00000682699.1:c.646-17del (AIP) | ENSP00000507935.1:n.646-17del | |
| ENST00000683237.1:c.646-17del (AIP) | ENSP00000507343.1:n.646-17del | |
| ENST00000683856.1:c.469-17del (AIP) | ENSP00000507979.1:n.469-17del | |
| ENST00000684006.1:c.646-17del (AIP) | ENSP00000507269.1:n.646-17del | |
| ENST00000684657.1:c.466-17del (AIP) | ENSP00000507961.1:n.466-17del | |
| ENST00000279146.8:c.646-17del (AIP) MANE Select | ENSP00000279146.3:n.646-17del | |
| ENST00000279146.7:c.646-17del (AIP) | ENSP00000279146.3:n.646-17del | |
| ENST00000525341.1:c.298-17del (AIP) | ENSP00000476993.1:n.298-17del | |
| ENST00000528641.6:c.457-17del (AIP) | ENSP00000434982.2:n.457-17del | |
| NM_001302959.1:c.469-17del (AIP) | NP_001289888.1:n.469-17del | |
| NM_001302960.1:c.646-17del (AIP) | NP_001289889.1:n.646-17del | |
| NM_003977.3:c.646-17del (AIP) | NP_003968.3:n.646-17del | |
| NR_106810.1:n.55del (MIR6752) | ||
| XM_024448761.1:c.646-17del (AIP) | XP_024304529.1:n.646-17del | |
| NM_003977.4:c.646-17del (AIP) MANE Select | NP_003968.3:n.646-17del | |
| NM_001302960.2:c.646-17del (AIP) | NP_001289889.1:n.646-17del | |
| NM_001302959.2:c.469-17del (AIP) | NP_001289888.1:n.469-17del |