Linked Data
dbSNP Id:
rs780375560
ExAC:
11:118963620 CT / C
gnomAD v2:
11-118963620-CT-C
gnomAD v3:
11-119092910-CT-C
gnomAD v4:
11-119092910-CT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119092911del , CM000673.2:g.119092911del | GRCh38 |
| NC_000011.9:g.118963621del , CM000673.1:g.118963621del | GRCh37 |
| NC_000011.8:g.118468831del | NCBI36 |
| NG_008093.1:g.13035del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000686218.1:c.661-24del | ENSP00000509288.1:n.661-24del | |
| ENST00000691144.1:n.3041-24del | ||
| ENST00000691249.1:n.1650-24del | ||
| ENST00000442944.7:c.808-24del | ENSP00000392041.3:n.808-24del | |
| ENST00000640813.1:c.*63-24del | ENSP00000491061.1:n.*63-24del | |
| ENST00000648026.1:c.720-24del | ENSP00000498044.1:n.720-24del | |
| ENST00000648374.1:c.775-24del | ENSP00000497255.1:n.775-24del | |
| ENST00000649823.1:n.1283-24del | ||
| ENST00000650101.1:c.757-24del | ENSP00000496970.1:n.757-24del | |
| ENST00000650307.1:n.1652-24del | ||
| ENST00000652429.1:c.826-24del MANE Select | ENSP00000498786.1:n.826-24del | |
| ENST00000278715.7:c.826-24del | ENSP00000278715.3:n.826-24del | |
| ENST00000392841.1:c.775-24del | ENSP00000376584.1:n.775-24del | |
| ENST00000442944.6:c.775-24del | ENSP00000392041.2:n.775-24del | |
| ENST00000537841.5:c.775-24del | ENSP00000444730.1:n.775-24del | |
| ENST00000539045.1:n.301del | ||
| ENST00000542044.5:n.1271-24del | ||
| ENST00000542729.5:c.655-24del | ENSP00000443058.1:n.655-24del | |
| ENST00000543090.5:c.733-24del | ENSP00000445429.1:n.733-24del | |
| ENST00000543543.5:n.1301-24del | ||
| ENST00000544182.1:n.1275-24del | ||
| ENST00000544387.5:c.706-24del | ENSP00000438424.1:n.706-24del | |
| ENST00000546226.5:n.1588-24del | ||
| NM_000190.3:c.826-24del | NP_000181.2:n.826-24del | |
| NM_001024382.1:c.775-24del | NP_001019553.1:n.775-24del | |
| NM_001258208.1:c.706-24del | NP_001245137.1:n.706-24del | |
| NM_001258209.1:c.655-24del | NP_001245138.1:n.655-24del | |
| XM_005271531.1:c.775-24del | XP_005271588.1:n.775-24del | |
| XM_005271532.1:c.775-24del | XP_005271589.1:n.775-24del | |
| XM_005271533.2:c.772-24del | XP_005271590.1:n.772-24del | |
| XM_011542796.1:c.661-24del | XP_011541098.1:n.661-24del | |
| NM_000190.4:c.826-24del MANE Select | NP_000181.2:n.826-24del | |
| NM_001024382.2:c.775-24del | NP_001019553.1:n.775-24del | |
| XM_005271533.3:c.772-24del | XP_005271590.1:n.772-24del | |
| XM_017017629.1:c.775-24del | XP_016873118.1:n.775-24del | |
| XM_024448460.1:c.652-24del | XP_024304228.1:n.652-24del | |
| NM_001258208.2:c.706-24del | NP_001245137.1:n.706-24del | |
| NM_001258209.2:c.655-24del | NP_001245138.1:n.655-24del |