Linked Data
dbSNP Id:
rs778930811
ExAC:
9:138656918 AG / A
gnomAD v2:
9-138656918-AG-A
MyVariant Identifiers:
chr9:g.138656919del (hg19)
chr9:g.135765074del (hg38)
chr9:g.135765073del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.135765077del , CM000671.2:g.135765077del | GRCh38 |
| NC_000009.11:g.138656923del , CM000671.1:g.138656923del | GRCh37 |
| NC_000009.10:g.137796744del | NCBI36 |
| NG_033070.1:g.67893del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371757.7:c.1082del MANE Select | ENSP00000360822.2:p.Gly361AlafsTer30 | |
| ENST00000674572.1:c.923del | ENSP00000501742.1:p.Gly308AlafsTer30 | |
| ENST00000675090.1:c.830del | ENSP00000501833.1:p.Gly277AlafsTer30 | |
| ENST00000675399.1:c.830del | ENSP00000501932.1:p.Gly277AlafsTer30 | |
| ENST00000676421.1:c.839del | ENSP00000502322.1:p.Gly280AlafsTer30 | |
| ENST00000263604.5:c.983del | ENSP00000263604.4:p.Gly328AlafsTer30 | |
| ENST00000371757.6:c.1082del | ENSP00000360822.2:p.Gly361AlafsTer30 | |
| ENST00000460750.5:c.*692del | ENSP00000418777.1:n.*692del | |
| ENST00000486577.6:c.965del | ENSP00000417578.3:p.Gly322AlafsTer30 | |
| ENST00000487664.5:c.1082del | ENSP00000417851.2:p.Gly361AlafsTer30 | |
| ENST00000488444.6:c.1025del | ENSP00000419007.3:p.Gly342AlafsTer30 | |
| ENST00000490355.6:c.1025del | ENSP00000418003.3:p.Gly342AlafsTer30 | |
| ENST00000490363.3:n.901del | ||
| ENST00000491806.6:c.1025del | ENSP00000419086.3:p.Gly342AlafsTer30 | |
| ENST00000628528.2:c.947del | ENSP00000486374.1:p.Gly316AlafsTer30 | |
| ENST00000630792.2:c.923del | ENSP00000486486.1:p.Gly308AlafsTer30 | |
| ENST00000631073.2:c.1025del | ENSP00000486130.1:p.Gly342AlafsTer30 | |
| NM_001272003.1:c.947del | NP_001258932.1:p.Gly316AlafsTer30 | |
| NM_020822.2:c.1082del | NP_065873.2:p.Gly361AlafsTer30 | |
| XM_011518877.1:c.1217del | XP_011517179.1:p.Gly406AlafsTer30 | |
| XM_011518878.1:c.1226del | XP_011517180.1:p.Gly409AlafsTer30 | |
| XM_011518879.1:c.1217del | XP_011517181.1:p.Gly406AlafsTer30 | |
| XM_011518880.1:c.983del | XP_011517182.1:p.Gly328AlafsTer30 | |
| XM_011518881.1:c.572del | XP_011517183.1:p.Gly191AlafsTer30 | |
| XM_011518877.3:c.1217del | XP_011517179.1:p.Gly406AlafsTer30 | |
| XM_011518878.3:c.1226del | XP_011517180.1:p.Gly409AlafsTer30 | |
| XM_011518879.3:c.1217del | XP_011517181.1:p.Gly406AlafsTer30 | |
| XM_011518881.3:c.572del | XP_011517183.1:p.Gly191AlafsTer30 | |
| XM_017014931.1:c.1016del | XP_016870420.1:p.Gly339AlafsTer30 | |
| XM_017014932.1:c.839del | XP_016870421.1:p.Gly280AlafsTer30 | |
| XM_017014933.1:c.572del | XP_016870422.1:p.Gly191AlafsTer30 | |
| XM_024447617.1:c.572del | XP_024303385.1:p.Gly191AlafsTer30 | |
| XM_024447618.1:c.572del | XP_024303386.1:p.Gly191AlafsTer30 | |
| NM_020822.3:c.1082del MANE Select | NP_065873.2:p.Gly361AlafsTer30 | |
| NM_001272003.2:c.947del | NP_001258932.1:p.Gly316AlafsTer30 |