Linked Data
dbSNP Id:
rs281864745
ExAC:
6:29910830 GTCAGGACC / G
gnomAD v2:
6-29910830-GTCAGGACC-G
gnomAD v3:
6-29943053-GTCAGGACC-G
gnomAD v4:
6-29943053-GTCAGGACC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.29943054_29943061del , CM000668.2:g.29943054_29943061del | GRCh38 |
| NC_000006.11:g.29910831_29910838del , CM000668.1:g.29910831_29910838del | GRCh37 |
| NC_000006.10:g.30018810_30018817del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000638375.2:c.343+28_343+35del | ENSP00000492789.2:n.343+28_343+35del | |
| ENST00000706892.1:n.619+28_619+35del | ||
| ENST00000706893.1:c.343+28_343+35del | ENSP00000516609.1:n.343+28_343+35del | |
| ENST00000706894.1:c.343+28_343+35del | ENSP00000516610.1:n.343+28_343+35del | |
| ENST00000706895.1:n.619+28_619+35del | ||
| ENST00000706896.1:n.619+28_619+35del | ||
| ENST00000706897.1:n.619+28_619+35del | ||
| ENST00000706898.1:c.343+28_343+35del | ENSP00000516611.1:n.343+28_343+35del | |
| ENST00000706899.1:n.619+28_619+35del | ||
| ENST00000706900.1:c.259+28_259+35del | ENSP00000516617.1:n.259+28_259+35del | |
| ENST00000706901.1:c.343+28_343+35del | ENSP00000516612.1:n.343+28_343+35del | |
| ENST00000706902.1:c.343+28_343+35del | ENSP00000516613.1:n.343+28_343+35del | |
| ENST00000706903.1:c.343+28_343+35del | ENSP00000516614.1:n.343+28_343+35del | |
| ENST00000706904.1:c.343+28_343+35del | ENSP00000516615.1:n.343+28_343+35del | |
| ENST00000706905.1:c.343+28_343+35del | ENSP00000516616.1:n.343+28_343+35del | |
| ENST00000376809.10:c.343+28_343+35del MANE Select | ENSP00000366005.5:n.343+28_343+35del | |
| ENST00000638375.1:c.343+28_343+35del | ENSP00000492789.1:n.343+28_343+35del | |
| ENST00000376802.2:c.343+28_343+35del | ENSP00000365998.2:n.343+28_343+35del | |
| ENST00000376806.9:c.343+28_343+35del | ENSP00000366002.5:n.343+28_343+35del | |
| ENST00000376809.9:c.343+28_343+35del | ENSP00000366005.5:n.343+28_343+35del | |
| ENST00000396634.5:c.343+28_343+35del | ENSP00000379873.1:n.343+28_343+35del | |
| ENST00000429656.1:n.7_14del | ||
| ENST00000461903.1:n.371_378del | ||
| ENST00000479320.5:n.371_378del | ||
| ENST00000495183.5:n.373_380del | ||
| ENST00000496081.5:n.177+200_177+207del | ||
| NM_002116.7:c.343+28_343+35del | NP_002107.3:n.343+28_343+35del | |
| NM_002116.8:c.343+28_343+35del MANE Select | NP_002107.3:n.343+28_343+35del |