Linked Data
dbSNP Id:
rs1361907804
gnomAD v2:
6-30891248-ACTTCTGG-A
gnomAD v4:
6-30923471-ACTTCTGG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.30923476_30923482del , CM000668.2:g.30923476_30923482del | GRCh38 |
| NC_000006.11:g.30891253_30891259del , CM000668.1:g.30891253_30891259del | GRCh37 |
| NC_000006.10:g.30999232_30999238del | NCBI36 |
| NG_034224.1:g.14269_14275del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000541562.6:c.2437_2443del | ENSP00000441000.2:p.Trp813ThrfsTer11 | |
| ENST00000672801.1:c.2431_2437del | ENSP00000500615.1:p.Trp811ThrfsTer11 | |
| ENST00000676266.1:c.2437_2443del MANE Select | ENSP00000502585.1:p.Trp813ThrfsTer11 | |
| ENST00000321897.9:c.2437_2443del | ENSP00000316092.5:p.Trp813ThrfsTer11 | |
| ENST00000469358.5:n.2425_2431del | ||
| ENST00000473916.1:n.148_154del | ||
| ENST00000476162.5:n.1224_1230del | ||
| ENST00000477052.1:n.523_529del | ||
| ENST00000477288.5:n.5050_5056del | ||
| ENST00000541562.5:c.2527_2533del | ENSP00000441000.1:p.Trp843ThrfsTer11 | |
| ENST00000542001.5:c.2431_2437del | ENSP00000438200.2:p.Trp811ThrfsTer11 | |
| ENST00000625423.2:c.2017_2023del | ENSP00000485818.1:p.Trp673ThrfsTer11 | |
| NM_001167733.2:c.2017_2023del | NP_001161205.1:p.Trp673ThrfsTer11 | |
| NM_001167734.1:c.2527_2533del | NP_001161206.1:p.Trp843ThrfsTer11 | |
| NM_020442.5:c.2437_2443del | NP_065175.4:p.Trp813ThrfsTer11 | |
| NM_001167733.3:c.2017_2023del | NP_001161205.1:p.Trp673ThrfsTer11 | |
| NM_001167734.2:c.2527_2533del | NP_001161206.1:p.Trp843ThrfsTer11 | |
| NM_020442.6:c.2437_2443del MANE Select | NP_065175.4:p.Trp813ThrfsTer11 |