Linked Data
dbSNP Id:
rs375274238
gnomAD v2:
5-155771824-GCATTT-G
gnomAD v3:
5-156344814-GCATTT-G
gnomAD v4:
5-156344814-GCATTT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.156344816_156344820del , CM000667.2:g.156344816_156344820del | GRCh38 |
| NC_000005.9:g.155771826_155771830del , CM000667.1:g.155771826_155771830del | GRCh37 |
| NC_000005.8:g.155704404_155704408del | NCBI36 |
| NG_008693.2:g.479473_479477del , LRG_205:g.479473_479477del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000337851.9:c.192+139_192+143del MANE Select | ENSP00000338343.4:n.192+139_192+143del | |
| ENST00000337851.8:c.192+139_192+143del | ENSP00000338343.4:n.192+139_192+143del | |
| ENST00000435422.7:c.189+139_189+143del | ENSP00000403003.2:n.189+139_189+143del | |
| ENST00000517913.5:c.192+139_192+143del | ENSP00000429378.1:n.192+139_192+143del | |
| ENST00000524347.2:c.192+139_192+143del | ENSP00000430794.1:n.192+139_192+143del | |
| NM_000337.5:c.192+139_192+143del , LRG_205t1:c.192+139_192+143del | NP_000328.2:n.192+139_192+143del | |
| NM_001128209.1:c.189+139_189+143del | NP_001121681.1:n.189+139_189+143del | |
| NM_172244.2:c.192+139_192+143del | NP_758447.1:n.192+139_192+143del | |
| XM_005265966.3:c.192+139_192+143del | XP_005266023.1:n.192+139_192+143del | |
| XM_005265967.1:c.192+139_192+143del | XP_005266024.1:n.192+139_192+143del | |
| XM_006714911.2:c.192+139_192+143del | XP_006714974.1:n.192+139_192+143del | |
| XM_011534621.1:c.189+139_189+143del | XP_011532923.1:n.189+139_189+143del | |
| XR_941123.1:n.254+2634_254+2638del | ||
| XM_005265966.5:c.192+139_192+143del | XP_005266023.1:n.192+139_192+143del | |
| XM_005265967.2:c.192+139_192+143del | XP_005266024.1:n.192+139_192+143del | |
| XM_011534621.2:c.189+139_189+143del | XP_011532923.1:n.189+139_189+143del | |
| XM_017009723.2:c.192+139_192+143del | XP_016865212.1:n.192+139_192+143del | |
| XM_017009724.1:c.192+139_192+143del | XP_016865213.1:n.192+139_192+143del | |
| NM_001128209.2:c.189+139_189+143del | NP_001121681.1:n.189+139_189+143del | |
| NM_172244.3:c.192+139_192+143del | NP_758447.1:n.192+139_192+143del | |
| NM_000337.6:c.192+139_192+143del MANE Select | NP_000328.2:n.192+139_192+143del |