Linked Data
dbSNP Id:
rs775401362
ExAC:
6:157222697 TCCA / T
gnomAD v2:
6-157222697-TCCA-T
gnomAD v3:
6-156901563-TCCA-T
gnomAD v4:
6-156901563-TCCA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.156901567_156901569del , CM000668.2:g.156901567_156901569del | GRCh38 |
| NC_000006.11:g.157222701_157222703del , CM000668.1:g.157222701_157222703del | GRCh37 |
| NC_000006.10:g.157264393_157264395del | NCBI36 |
| NG_032093.1:g.128638_128640del | |
| NG_032093.2:g.128638_128640del | |
| NG_066624.1:g.130542_130544del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000350026.11:c.2136+42_2136+44del | ENSP00000055163.8:n.2136+42_2136+44del | |
| ENST00000414678.8:c.2136+42_2136+44del | ENSP00000412835.3:n.2136+42_2136+44del | |
| ENST00000637015.2:c.2136+42_2136+44del | ENSP00000489729.2:n.2136+42_2136+44del | |
| ENST00000319584.11:c.150+42_150+44del | ENSP00000313006.7:n.150+42_150+44del | |
| ENST00000346085.10:c.2175+42_2175+44del | ENSP00000344546.5:n.2175+42_2175+44del | |
| ENST00000350026.10:c.1887+42_1887+44del | ENSP00000055163.7:n.1887+42_1887+44del | |
| ENST00000414678.7:c.384+42_384+44del | ENSP00000412835.2:n.384+42_384+44del | |
| ENST00000636205.1:n.241_243del | ||
| ENST00000636748.1:c.417+42_417+44del | ENSP00000489917.1:n.417+42_417+44del | |
| ENST00000636930.2:c.2136+42_2136+44del MANE Select | ENSP00000490491.2:n.2136+42_2136+44del | |
| ENST00000637532.1:c.162+42_162+44del | ENSP00000490420.1:n.162+42_162+44del | |
| ENST00000638000.1:c.353+42_353+44del | ||
| ENST00000647938.1:c.1926+42_1926+44del | ENSP00000498155.1:n.1926+42_1926+44del | |
| ENST00000674190.1:n.843+42_843+44del | ||
| ENST00000674298.1:c.1876+42_1876+44del | ||
| ENST00000319584.10:c.153+42_153+44del | ENSP00000313006.6:n.153+42_153+44del | |
| ENST00000346085.9:c.1926+42_1926+44del | ENSP00000344546.4:n.1926+42_1926+44del | |
| ENST00000350026.9:c.1887+42_1887+44del | ENSP00000055163.7:n.1887+42_1887+44del | |
| ENST00000414678.6:c.384+42_384+44del | ENSP00000412835.2:n.384+42_384+44del | |
| NM_017519.2:c.1887+42_1887+44del | NP_059989.2:n.1887+42_1887+44del | |
| NM_020732.3:c.1926+42_1926+44del | NP_065783.3:n.1926+42_1926+44del | |
| XM_005267069.3:c.1887+42_1887+44del | XP_005267126.2:n.1887+42_1887+44del | |
| XM_011535984.1:c.795+42_795+44del | XP_011534286.1:n.795+42_795+44del | |
| XM_011535985.1:c.795+42_795+44del | XP_011534287.1:n.795+42_795+44del | |
| XM_011535986.1:c.375+42_375+44del | XP_011534288.1:n.375+42_375+44del | |
| NM_001346813.1:c.1887+42_1887+44del | NP_001333742.1:n.1887+42_1887+44del | |
| XM_011535984.2:c.1926+42_1926+44del | XP_011534286.2:n.1926+42_1926+44del | |
| XM_017011103.2:c.1926+42_1926+44del | XP_016866592.1:n.1926+42_1926+44del | |
| XM_017011104.1:c.1926+42_1926+44del | XP_016866593.1:n.1926+42_1926+44del | |
| XM_017011105.2:c.1926+42_1926+44del | XP_016866594.1:n.1926+42_1926+44del | |
| XM_017011106.2:c.1926+42_1926+44del | XP_016866595.1:n.1926+42_1926+44del | |
| XM_017011107.2:c.1926+42_1926+44del | XP_016866596.1:n.1926+42_1926+44del | |
| XR_002956289.1:n.2009+42_2009+44del | ||
| NM_001371656.1:c.2175+42_2175+44del | NP_001358585.1:n.2175+42_2175+44del | |
| NM_001374820.1:c.2175+42_2175+44del | NP_001361749.1:n.2175+42_2175+44del | |
| NM_001374828.1:c.2136+42_2136+44del MANE Select | NP_001361757.1:n.2136+42_2136+44del | |
| NM_017519.3:c.2136+42_2136+44del | NP_059989.3:n.2136+42_2136+44del |