Linked Data
dbSNP Id:
rs1555206150
gnomAD v2:
11-118963191-TC-T
gnomAD v3:
11-119092481-TC-T
gnomAD v4:
11-119092481-TC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119092482del , CM000673.2:g.119092482del | GRCh38 |
| NC_000011.9:g.118963192del , CM000673.1:g.118963192del | GRCh37 |
| NC_000011.8:g.118468402del | NCBI36 |
| NG_008093.1:g.12606del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000686218.1:c.565del | ENSP00000509288.1:p.Leu189CysfsTer11 | |
| ENST00000691144.1:n.2711del | ||
| ENST00000691249.1:n.1554del | ||
| ENST00000442944.7:c.712del | ENSP00000392041.3:p.Leu238CysfsTer11 | |
| ENST00000536813.6:c.679del | ENSP00000438726.2:p.Leu227CysfsTer? | |
| ENST00000640813.1:c.540del | ENSP00000491061.1:p.Cys181AlafsTer6 | |
| ENST00000648026.1:c.624del | ENSP00000498044.1:p.Cys209AlafsTer6 | |
| ENST00000648374.1:c.679del | ENSP00000497255.1:p.Leu227CysfsTer11 | |
| ENST00000649823.1:n.1187del | ||
| ENST00000650101.1:c.661del | ENSP00000496970.1:p.Leu221CysfsTer11 | |
| ENST00000650307.1:n.1556del | ||
| ENST00000652429.1:c.730del MANE Select | ENSP00000498786.1:p.Leu244CysfsTer11 | |
| ENST00000278715.7:c.730del | ENSP00000278715.3:p.Leu244CysfsTer11 | |
| ENST00000392841.1:c.679del | ENSP00000376584.1:p.Leu227CysfsTer11 | |
| ENST00000442944.6:c.679del | ENSP00000392041.2:p.Leu227CysfsTer11 | |
| ENST00000537841.5:c.679del | ENSP00000444730.1:p.Leu227CysfsTer11 | |
| ENST00000542044.5:n.1175del | ||
| ENST00000542729.5:c.601-276del | ENSP00000443058.1:n.601-276del | |
| ENST00000543090.5:c.637del | ENSP00000445429.1:p.Leu213CysfsTer11 | |
| ENST00000543543.5:n.1205del | ||
| ENST00000544182.1:n.945del | ||
| ENST00000544387.5:c.652-276del | ENSP00000438424.1:n.652-276del | |
| ENST00000545621.5:c.*865del | ENSP00000444849.1:n.*865del | |
| ENST00000546226.5:n.1258del | ||
| NM_000190.3:c.730del | NP_000181.2:p.Leu244CysfsTer11 | |
| NM_001024382.1:c.679del | NP_001019553.1:p.Leu227CysfsTer11 | |
| NM_001258208.1:c.652-276del | NP_001245137.1:n.652-276del | |
| NM_001258209.1:c.601-276del | NP_001245138.1:n.601-276del | |
| XM_005271531.1:c.679del | XP_005271588.1:p.Leu227CysfsTer11 | |
| XM_005271532.1:c.679del | XP_005271589.1:p.Leu227CysfsTer11 | |
| XM_005271533.2:c.676del | XP_005271590.1:p.Leu226CysfsTer11 | |
| XM_011542796.1:c.565del | XP_011541098.1:p.Leu189CysfsTer11 | |
| NM_000190.4:c.730del MANE Select | NP_000181.2:p.Leu244CysfsTer11 | |
| NM_001024382.2:c.679del | NP_001019553.1:p.Leu227CysfsTer11 | |
| XM_005271533.3:c.676del | XP_005271590.1:p.Leu226CysfsTer11 | |
| XM_017017629.1:c.679del | XP_016873118.1:p.Leu227CysfsTer11 | |
| XM_024448460.1:c.598-276del | XP_024304228.1:n.598-276del | |
| NM_001258208.2:c.652-276del | NP_001245137.1:n.652-276del | |
| NM_001258209.2:c.601-276del | NP_001245138.1:n.601-276del |