Linked Data
dbSNP Id:
rs1564084830
gnomAD v2:
9-451821-CAATTT-C
gnomAD v3:
9-451821-CAATTT-C
gnomAD v4:
9-451821-CAATTT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.451827_451831del , CM000671.2:g.451827_451831del | GRCh38 |
| NC_000009.11:g.451827_451831del , CM000671.1:g.451827_451831del | GRCh37 |
| NC_000009.10:g.441827_441831del | NCBI36 |
| NG_017007.1:g.241963_241967del , LRG_196:g.241963_241967del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382329.2:c.5662-184_5662-180del | ENSP00000371766.2:n.5662-184_5662-180del | |
| ENST00000683406.1:n.2437-184_2437-180del | ||
| ENST00000684637.1:n.1643-184_1643-180del | ||
| ENST00000685949.1:n.4750-184_4750-180del | ||
| ENST00000432829.7:c.5962-184_5962-180del MANE Select | ENSP00000394888.3:n.5962-184_5962-180del | |
| ENST00000382329.1:c.4363-184_4363-180del | ENSP00000371766.1:n.4363-184_4363-180del | |
| ENST00000432829.6:c.5962-184_5962-180del | ENSP00000394888.3:n.5962-184_5962-180del | |
| ENST00000453981.5:c.5758-184_5758-180del | ENSP00000408464.2:n.5758-184_5758-180del | |
| ENST00000469391.5:c.5662-184_5662-180del | ENSP00000419438.1:n.5662-184_5662-180del | |
| ENST00000495184.5:n.7917-184_7917-180del | ||
| NM_001190458.1:c.5662-184_5662-180del | NP_001177387.1:n.5662-184_5662-180del | |
| NM_001193536.1:c.5758-184_5758-180del | NP_001180465.1:n.5758-184_5758-180del | |
| NM_203447.3:c.5962-184_5962-180del , LRG_196t1:c.5962-184_5962-180del | NP_982272.2:n.5962-184_5962-180del | |
| XM_011518045.1:c.5662-184_5662-180del | XP_011516347.1:n.5662-184_5662-180del | |
| XM_011518046.1:c.5824-184_5824-180del | XP_011516348.1:n.5824-184_5824-180del | |
| XM_011518047.1:c.5758-184_5758-180del | XP_011516349.1:n.5758-184_5758-180del | |
| XM_011518048.1:c.5758-184_5758-180del | XP_011516350.1:n.5758-184_5758-180del | |
| XM_011518049.1:c.4198-184_4198-180del | XP_011516351.1:n.4198-184_4198-180del | |
| XM_011518045.3:c.5662-184_5662-180del | XP_011516347.1:n.5662-184_5662-180del | |
| XM_011518046.2:c.5824-184_5824-180del | XP_011516348.1:n.5824-184_5824-180del | |
| XM_011518047.3:c.5758-184_5758-180del | XP_011516349.1:n.5758-184_5758-180del | |
| XM_011518048.2:c.5758-184_5758-180del | XP_011516350.1:n.5758-184_5758-180del | |
| XM_011518049.2:c.4198-184_4198-180del | XP_011516351.1:n.4198-184_4198-180del | |
| XM_017015173.1:c.5758-184_5758-180del | XP_016870662.1:n.5758-184_5758-180del | |
| XM_017015174.1:c.5824-184_5824-180del | XP_016870663.1:n.5824-184_5824-180del | |
| NM_001190458.2:c.5662-184_5662-180del | NP_001177387.1:n.5662-184_5662-180del | |
| NM_001193536.2:c.5758-184_5758-180del | NP_001180465.1:n.5758-184_5758-180del | |
| NM_203447.4:c.5962-184_5962-180del MANE Select | NP_982272.2:n.5962-184_5962-180del |