Linked Data
dbSNP Id:
rs1938365095
gnomAD v3:
11-61887804-CAGGATAGGTGGCAGCATAGCAT-C
gnomAD v4:
11-61887804-CAGGATAGGTGGCAGCATAGCAT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.61887805_61887826del , CM000673.2:g.61887805_61887826del | GRCh38 |
| NC_000011.9:g.61655277_61655298del , CM000673.1:g.61655277_61655298del | GRCh37 |
| NC_000011.8:g.61411853_61411874del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000278829.7:c.213+3343_213+3364del MANE Select | ENSP00000278829.2:n.213+3343_213+3364del | |
| ENST00000278829.6:c.213+3343_213+3364del | ENSP00000278829.2:n.213+3343_213+3364del | |
| ENST00000414624.6:n.286+3343_286+3364del | ||
| ENST00000525588.5:c.213+3343_213+3364del | ENSP00000432206.1:n.213+3343_213+3364del | |
| ENST00000527697.5:c.-160+4033_-160+4054del | ENSP00000431533.1:n.-160+4033_-160+4054del | |
| NM_021727.4:c.213+3343_213+3364del | NP_068373.1:n.213+3343_213+3364del | |
| XM_011545023.1:c.213+3343_213+3364del | XP_011543325.1:n.213+3343_213+3364del | |
| XM_011545023.2:c.213+3343_213+3364del | XP_011543325.1:n.213+3343_213+3364del | |
| XM_017017723.1:c.351+4033_351+4054del | XP_016873212.1:n.351+4033_351+4054del | |
| XM_017017724.1:c.351+4033_351+4054del | XP_016873213.1:n.351+4033_351+4054del | |
| XR_001747866.1:n.366+4033_366+4054del | ||
| XR_001747867.1:n.366+4033_366+4054del | ||
| XR_001747868.1:n.377+3343_377+3364del | ||
| XR_001747869.1:n.377+3343_377+3364del | ||
| NM_021727.5:c.213+3343_213+3364del MANE Select | NP_068373.1:n.213+3343_213+3364del |