Linked Data
dbSNP Id:
rs1567211713
gnomAD v2:
16-10070583-AGCTCCCACCTTT-A
gnomAD v3:
16-9976726-AGCTCCCACCTTT-A
gnomAD v4:
16-9976726-AGCTCCCACCTTT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.9976727_9976738del , CM000678.2:g.9976727_9976738del | GRCh38 |
| NC_000016.9:g.10070584_10070595del , CM000678.1:g.10070584_10070595del | GRCh37 |
| NC_000016.8:g.9978085_9978096del | NCBI36 |
| NG_011812.1:g.211017_211028del | |
| NG_011812.2:g.211017_211028del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330684.4:c.415-38187_415-38176del MANE Select | ENSP00000332549.3:n.415-38187_415-38176del | |
| ENST00000637393.1:c.7-38187_7-38176del | ENSP00000490232.1:n.7-38187_7-38176del | |
| ENST00000674742.1:c.-57-38187_-57-38176del | ENSP00000502200.1:n.-57-38187_-57-38176del | |
| ENST00000675189.1:n.899-38187_899-38176del | ||
| ENST00000675398.1:c.415-38187_415-38176del | ENSP00000502752.1:n.415-38187_415-38176del | |
| ENST00000330684.3:c.415-38187_415-38176del | ENSP00000332549.3:n.415-38187_415-38176del | |
| ENST00000396573.6:c.415-38187_415-38176del | ENSP00000379818.2:n.415-38187_415-38176del | |
| ENST00000562109.5:c.415-38187_415-38176del | ENSP00000454998.1:n.415-38187_415-38176del | |
| ENST00000566670.2:n.257-38187_257-38176del | ||
| ENST00000566683.1:n.240+54587_240+54598del | ||
| ENST00000568247.3:n.141-33442_141-33431del | ||
| NM_000833.4:c.415-38187_415-38176del | NP_000824.1:n.415-38187_415-38176del | |
| NM_001134407.2:c.415-38187_415-38176del | NP_001127879.1:n.415-38187_415-38176del | |
| NM_001134408.2:c.415-38187_415-38176del | NP_001127880.1:n.415-38187_415-38176del | |
| XM_011522456.1:c.256-38187_256-38176del | XP_011520758.1:n.256-38187_256-38176del | |
| XM_011522458.1:c.-57-38187_-57-38176del | XP_011520760.1:n.-57-38187_-57-38176del | |
| XM_011522459.1:c.-201-22038_-201-22027del | XP_011520761.1:n.-201-22038_-201-22027del | |
| XM_011522460.1:c.-197-22042_-197-22031del | XP_011520762.1:n.-197-22042_-197-22031del | |
| XM_011522461.1:c.415-38187_415-38176del | XP_011520763.1:n.415-38187_415-38176del | |
| XM_011522458.3:c.-57-38187_-57-38176del | XP_011520760.1:n.-57-38187_-57-38176del | |
| XM_011522461.3:c.415-38187_415-38176del | XP_011520763.1:n.415-38187_415-38176del | |
| XM_017023172.1:c.571-38187_571-38176del | XP_016878661.1:n.571-38187_571-38176del | |
| XM_017023173.1:c.571-38187_571-38176del | XP_016878662.1:n.571-38187_571-38176del | |
| NM_001134407.3:c.415-38187_415-38176del MANE Select | NP_001127879.1:n.415-38187_415-38176del | |
| NM_000833.5:c.415-38187_415-38176del | NP_000824.1:n.415-38187_415-38176del |