MyVariant.info:
GRCh38
chr5:g.91153328_91153346del
GRCh38
chr5:g.91153324_91153342del
GRCh37
chr5:g.90449145_90449163del
GRCh37
chr5:g.90449141_90449159del
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000689 (NFE)
Genomes Max Group AF
0.00002846 (NFE)
Exomes Max Group AF
0.00000381 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.91153328_91153346del , CM000667.2:g.91153328_91153346del | GRCh38 |
| NC_000005.9:g.90449145_90449163del , CM000667.1:g.90449145_90449163del | GRCh37 |
| NC_000005.8:g.90484901_90484919del | NCBI36 |
| NG_007083.1:g.599529_599547del | |
| NG_007083.2:g.628985_629003del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405460.9:c.18732_18750del MANE Select | ENSP00000384582.2:p.Tyr6244Ter | |
| ENST00000425867.3:c.7686_7704del | ENSP00000392618.3:p.Tyr2562Ter | |
| ENST00000638510.1:n.5999_6017del | ||
| ENST00000638990.1:c.1944_1962del | ||
| ENST00000639212.1:n.652_670del | ||
| ENST00000639530.1:n.600_618del | ||
| ENST00000639821.1:c.517-10454_517-10436del | ENSP00000492216.1:n.517-10454_517-10436del | |
| ENST00000640256.1:n.408_426del | ||
| ENST00000640407.1:c.5181_5199del | ENSP00000491425.1:n.5181_5199del | |
| ENST00000640815.1:c.816_834del | ENSP00000491767.1:p.Tyr272Ter | |
| ENST00000405460.6:c.18732_18750del | ENSP00000384582.2:p.Tyr6244Ter | |
| ENST00000425867.2:c.5715_5733del | ENSP00000392618.2:p.Tyr1905Ter | |
| NM_032119.3:c.18732_18750del | NP_115495.3:p.Tyr6244Ter | |
| NR_003149.1:n.18745_18763del | ||
| XM_011543675.1:c.18729_18747del | XP_011541977.1:p.Tyr6243Ter | |
| XM_011543676.1:c.18651_18669del | XP_011541978.1:p.Tyr6217Ter | |
| XM_011543677.1:c.16035_16053del | XP_011541979.1:p.Tyr5345Ter | |
| NM_032119.4:c.18732_18750del MANE Select | NP_115495.3:p.Tyr6244Ter | |
| XM_017009963.2:c.18753_18771del | XP_016865452.1:p.Tyr6251Ter | |
| XM_017009964.2:c.18750_18768del | XP_016865453.1:p.Tyr6250Ter | |
| XM_017009965.1:c.18750_18768del | XP_016865454.1:p.Tyr6250Ter | |
| XM_017009966.2:c.18672_18690del | XP_016865455.1:p.Tyr6224Ter | |
| XM_017009967.1:c.18657_18675del | XP_016865456.1:p.Tyr6219Ter | |
| XM_017009968.2:c.18573_18591del | XP_016865457.1:p.Tyr6191Ter | |
| XM_017009969.2:c.18454-10454_18454-10436del | XP_016865458.1:n.18454-10454_18454-10436del | |
| XM_017009972.1:c.11871_11889del | XP_016865461.1:p.Tyr3957Ter | |
| XM_017009973.1:c.11850_11868del | XP_016865462.1:p.Tyr3950Ter | |
| XR_001742795.1:n.225-1154_225-1136del | ||
| XR_001742796.1:n.225-17348_225-17330del | ||
| NR_003149.2:n.18748_18766del |