Linked Data
dbSNP Id:
rs201932054
ExAC:
11:66283082 AC / A
gnomAD v2:
11-66283082-AC-A
gnomAD v3:
11-66515611-AC-A
gnomAD v4:
11-66515611-AC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.66515617del , CM000673.2:g.66515617del | GRCh38 |
| NC_000011.9:g.66283088del , CM000673.1:g.66283088del | GRCh37 |
| NC_000011.8:g.66039664del | NCBI36 |
| NG_009093.1:g.9970del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318312.12:c.479+31del MANE Select | ENSP00000317469.7:n.479+31del | |
| ENST00000318312.11:c.479+31del | ENSP00000317469.7:n.479+31del | |
| ENST00000393994.4:c.479+31del | ENSP00000377563.2:n.479+31del | |
| ENST00000419755.3:c.590+31del | ENSP00000398526.3:n.590+31del | |
| ENST00000455748.6:c.432+939del | ENSP00000405764.2:n.432+939del | |
| ENST00000524458.5:c.*140-76del | ENSP00000436195.1:n.*140-76del | |
| ENST00000524907.5:n.500del | ||
| ENST00000525809.5:c.206+31del | ENSP00000431187.1:n.206+31del | |
| ENST00000526035.5:c.*186+31del | ENSP00000434197.1:n.*186+31del | |
| ENST00000526760.5:c.*186+31del | ENSP00000432140.1:n.*186+31del | |
| ENST00000527251.5:c.*186+31del | ENSP00000434360.1:n.*186+31del | |
| ENST00000529766.5:n.486+31del | ||
| ENST00000529953.5:n.131+31del | ||
| ENST00000529955.5:n.451-76del | ||
| ENST00000532908.5:c.*140-76del | ENSP00000431866.1:n.*140-76del | |
| ENST00000533430.5:n.257+31del | ||
| ENST00000533557.5:c.*140-76del | ENSP00000434619.1:n.*140-76del | |
| ENST00000533644.5:c.433-76del | ENSP00000436073.1:n.433-76del | |
| ENST00000534730.5:n.491+31del | ||
| ENST00000630659.2:c.*186+31del | ENSP00000486455.1:n.*186+31del | |
| NM_024649.4:c.479+31del | NP_078925.3:n.479+31del | |
| NM_024649.5:c.479+31del MANE Select | NP_078925.3:n.479+31del |