Linked Data
dbSNP Id:
rs765964763
ExAC:
6:30891080 AAGG / A
gnomAD v2:
6-30891080-AAGG-A
gnomAD v3:
6-30923303-AAGG-A
gnomAD v4:
6-30923303-AAGG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.30923307_30923309del , CM000668.2:g.30923307_30923309del | GRCh38 |
| NC_000006.11:g.30891084_30891086del , CM000668.1:g.30891084_30891086del | GRCh37 |
| NC_000006.10:g.30999063_30999065del | NCBI36 |
| NG_034224.1:g.14100_14102del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000541562.6:c.2314-46_2314-44del | ENSP00000441000.2:n.2314-46_2314-44del | |
| ENST00000672801.1:c.2308-46_2308-44del | ENSP00000500615.1:n.2308-46_2308-44del | |
| ENST00000676266.1:c.2314-46_2314-44del MANE Select | ENSP00000502585.1:n.2314-46_2314-44del | |
| ENST00000321897.9:c.2314-46_2314-44del | ENSP00000316092.5:n.2314-46_2314-44del | |
| ENST00000469358.5:n.2302-46_2302-44del | ||
| ENST00000473916.1:n.25-46_25-44del | ||
| ENST00000476162.5:n.1101-46_1101-44del | ||
| ENST00000477052.1:n.400-46_400-44del | ||
| ENST00000477288.5:n.4927-46_4927-44del | ||
| ENST00000541562.5:c.2404-46_2404-44del | ENSP00000441000.1:n.2404-46_2404-44del | |
| ENST00000542001.5:c.2308-46_2308-44del | ENSP00000438200.2:n.2308-46_2308-44del | |
| ENST00000625423.2:c.1894-46_1894-44del | ENSP00000485818.1:n.1894-46_1894-44del | |
| NM_001167733.2:c.1894-46_1894-44del | NP_001161205.1:n.1894-46_1894-44del | |
| NM_001167734.1:c.2404-46_2404-44del | NP_001161206.1:n.2404-46_2404-44del | |
| NM_020442.5:c.2314-46_2314-44del | NP_065175.4:n.2314-46_2314-44del | |
| NM_001167733.3:c.1894-46_1894-44del | NP_001161205.1:n.1894-46_1894-44del | |
| NM_001167734.2:c.2404-46_2404-44del | NP_001161206.1:n.2404-46_2404-44del | |
| NM_020442.6:c.2314-46_2314-44del MANE Select | NP_065175.4:n.2314-46_2314-44del |