Linked Data
dbSNP Id:
rs530110758
gnomAD v2:
8-17922131-TGTGA-T
gnomAD v3:
8-18064622-TGTGA-T
gnomAD v4:
8-18064622-TGTGA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.18064626_18064629del , CM000670.2:g.18064626_18064629del | GRCh38 |
| NC_000008.10:g.17922135_17922138del , CM000670.1:g.17922135_17922138del | GRCh37 |
| NC_000008.9:g.17966415_17966418del | NCBI36 |
| NG_008985.1:g.25373_25376del | |
| NG_008985.2:g.25373_25376del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381733.9:c.431-95_431-92del | ENSP00000371152.4:n.431-95_431-92del | |
| ENST00000519545.6:n.400-95_400-92del | ||
| ENST00000520781.6:c.383-1396_383-1393del | ENSP00000427751.1:n.383-1396_383-1393del | |
| ENST00000523593.6:c.*226-95_*226-92del | ENSP00000490700.1:n.*226-95_*226-92del | |
| ENST00000523744.2:n.4046_4049del | ||
| ENST00000635769.1:c.404-95_404-92del | ENSP00000490485.1:n.404-95_404-92del | |
| ENST00000635944.1:c.*219-95_*219-92del | ENSP00000490195.1:n.*219-95_*219-92del | |
| ENST00000635998.1:c.383-95_383-92del | ENSP00000490506.1:n.383-95_383-92del | |
| ENST00000636009.1:c.315-1396_315-1393del | ENSP00000489988.1:n.315-1396_315-1393del | |
| ENST00000636033.1:c.*219-95_*219-92del | ENSP00000489617.1:n.*219-95_*219-92del | |
| ENST00000636050.1:c.*226-95_*226-92del | ENSP00000490562.1:n.*226-95_*226-92del | |
| ENST00000636128.1:c.382+2594_382+2597del | ENSP00000489789.1:n.382+2594_382+2597del | |
| ENST00000636160.1:c.*275-95_*275-92del | ENSP00000489651.1:n.*275-95_*275-92del | |
| ENST00000636171.1:c.383-152_383-149del | ENSP00000489761.1:n.383-152_383-149del | |
| ENST00000636299.1:c.*154-95_*154-92del | ENSP00000490202.1:n.*154-95_*154-92del | |
| ENST00000636435.1:n.3060_3063del | ||
| ENST00000636455.1:c.431-95_431-92del | ENSP00000490502.1:n.431-95_431-92del | |
| ENST00000636494.1:c.*163-95_*163-92del | ENSP00000490388.1:n.*163-95_*163-92del | |
| ENST00000636563.1:n.45-95_45-92del | ||
| ENST00000636577.1:c.383-155_383-152del | ENSP00000490027.1:n.383-155_383-152del | |
| ENST00000636691.1:c.188-95_188-92del | ENSP00000490725.1:n.188-95_188-92del | |
| ENST00000636701.1:c.*34-95_*34-92del | ENSP00000489800.1:n.*34-95_*34-92del | |
| ENST00000636815.1:c.300-95_300-92del | ||
| ENST00000636823.1:c.188-95_188-92del | ENSP00000490798.1:n.188-95_188-92del | |
| ENST00000636828.1:n.3152_3155del | ||
| ENST00000636920.1:c.*219-95_*219-92del | ENSP00000490437.1:n.*219-95_*219-92del | |
| ENST00000636997.1:c.296-95_296-92del | ENSP00000490093.1:n.296-95_296-92del | |
| ENST00000637013.1:c.*595-95_*595-92del | ENSP00000490596.1:n.*595-95_*595-92del | |
| ENST00000637095.1:c.*163-95_*163-92del | ENSP00000490415.1:n.*163-95_*163-92del | |
| ENST00000637244.1:c.*901-95_*901-92del | ENSP00000490188.1:n.*901-95_*901-92del | |
| ENST00000637343.1:n.499_502del | ||
| ENST00000637429.1:c.*595-95_*595-92del | ENSP00000490522.1:n.*595-95_*595-92del | |
| ENST00000637484.1:c.*420-1396_*420-1393del | ENSP00000490837.1:n.*420-1396_*420-1393del | |
| ENST00000637528.1:c.383-158_383-155del | ENSP00000490801.1:n.383-158_383-155del | |
| ENST00000637603.1:c.353-95_353-92del | ENSP00000489979.1:n.353-95_353-92del | |
| ENST00000637609.1:n.3009_3012del | ||
| ENST00000637636.1:c.377-95_377-92del | ENSP00000490112.1:n.377-95_377-92del | |
| ENST00000637638.1:c.383-95_383-92del | ENSP00000490774.1:n.383-95_383-92del | |
| ENST00000637718.1:c.188-95_188-92del | ENSP00000490133.1:n.188-95_188-92del | |
| ENST00000637790.2:c.383-95_383-92del MANE Select | ENSP00000490272.1:n.383-95_383-92del | |
| ENST00000637857.1:n.105-2203_105-2200del | ||
| ENST00000637922.1:c.188-95_188-92del | ENSP00000490071.1:n.188-95_188-92del | |
| ENST00000637991.1:c.431-1396_431-1393del | ENSP00000489901.1:n.431-1396_431-1393del | |
| ENST00000638069.1:n.439-95_439-92del | ||
| ENST00000262097.10:c.383-95_383-92del | ENSP00000262097.6:n.383-95_383-92del | |
| ENST00000314146.10:c.365-95_365-92del | ENSP00000326970.10:n.365-95_365-92del | |
| ENST00000381733.8:c.431-95_431-92del | ENSP00000371152.4:n.431-95_431-92del | |
| ENST00000519468.5:n.389-2259_389-2256del | ||
| ENST00000519545.5:n.397-95_397-92del | ||
| ENST00000520781.5:c.383-1396_383-1393del | ENSP00000427751.1:n.383-1396_383-1393del | |
| ENST00000523593.5:n.236-95_236-92del | ||
| ENST00000523744.1:n.291_294del | ||
| NM_001127505.1:c.365-95_365-92del | NP_001120977.1:n.365-95_365-92del | |
| NM_001127505.2:c.365-95_365-92del | NP_001120977.1:n.365-95_365-92del | |
| NM_004315.4:c.431-95_431-92del | NP_004306.3:n.431-95_431-92del | |
| NM_004315.5:c.431-95_431-92del | NP_004306.3:n.431-95_431-92del | |
| NM_177924.3:c.383-95_383-92del | NP_808592.2:n.383-95_383-92del | |
| NM_177924.4:c.383-95_383-92del | NP_808592.2:n.383-95_383-92del | |
| XM_005273504.2:c.317-95_317-92del | XP_005273561.1:n.317-95_317-92del | |
| NM_001363743.1:c.188-95_188-92del | NP_001350672.1:n.188-95_188-92del | |
| XM_005273504.3:c.317-95_317-92del | XP_005273561.1:n.317-95_317-92del | |
| NM_177924.5:c.383-95_383-92del MANE Select | NP_808592.2:n.383-95_383-92del | |
| NM_001127505.3:c.365-95_365-92del | NP_001120977.1:n.365-95_365-92del | |
| NM_001363743.2:c.188-95_188-92del | NP_001350672.1:n.188-95_188-92del | |
| NM_004315.6:c.431-95_431-92del | NP_004306.3:n.431-95_431-92del |