Linked Data
dbSNP Id:
rs558895234
gnomAD v2:
10-26501280-ATT-A
gnomAD v3:
10-26212351-ATT-A
gnomAD v4:
10-26212351-ATT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.26212361_26212362del , CM000672.2:g.26212361_26212362del | GRCh38 |
| NC_000010.10:g.26501290_26501291del , CM000672.1:g.26501290_26501291del | GRCh37 |
| NC_000010.9:g.26541296_26541297del | NCBI36 |
| NG_011635.1:g.283289_283290del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642920.2:c.*398_*399del MANE Select | ENSP00000495965.1:n.*398_*399del | |
| ENST00000645292.1:n.709_710del | ||
| ENST00000265944.9:c.*398_*399del | ENSP00000265944.4:n.*398_*399del | |
| NM_017433.4:c.*398_*399del | NP_059129.3:n.*398_*399del | |
| XM_011519498.1:c.*398_*399del | XP_011517800.1:n.*398_*399del | |
| XM_011519499.1:c.*398_*399del | XP_011517801.1:n.*398_*399del | |
| XM_011519500.1:c.*398_*399del | XP_011517802.1:n.*398_*399del | |
| XM_011519501.1:c.*398_*399del | XP_011517803.1:n.*398_*399del | |
| XM_011519504.1:c.*300_*301del | XP_011517806.1:n.*300_*301del | |
| XM_011519505.1:c.*398_*399del | XP_011517807.1:n.*398_*399del | |
| XM_011519507.1:c.*398_*399del | XP_011517809.1:n.*398_*399del | |
| XM_011519512.1:c.*398_*399del | XP_011517814.1:n.*398_*399del | |
| XM_011519513.1:c.*398_*399del | XP_011517815.1:n.*398_*399del | |
| XR_930493.1:n.5346_5347del | ||
| XM_011519498.2:c.*398_*399del | XP_011517800.1:n.*398_*399del | |
| XM_011519500.2:c.*398_*399del | XP_011517802.1:n.*398_*399del | |
| XM_011519513.2:c.*398_*399del | XP_011517815.1:n.*398_*399del | |
| XR_001747111.1:n.4306_4307del | ||
| NM_017433.5:c.*398_*399del MANE Select | NP_059129.3:n.*398_*399del |