Linked Data
ClinVar Variation Id:
492695
dbSNP Id:
rs745657036
ExAC:
14:75513204 AG / A
gnomAD v2:
14-75513204-AG-A
gnomAD v3:
14-75046501-AG-A
gnomAD v4:
14-75046501-AG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.75046504del , CM000676.2:g.75046504del | GRCh38 |
| NC_000014.8:g.75513207del , CM000676.1:g.75513207del | GRCh37 |
| NC_000014.7:g.74582960del | NCBI36 |
| NG_008649.1:g.10031del , LRG_217:g.10031del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355774.7:c.3154del MANE Select | ENSP00000348020.2:p.Leu1052TrpfsTer10 | |
| ENST00000355774.6:c.3154del | ENSP00000348020.2:p.Leu1052TrpfsTer10 | |
| ENST00000380968.6:c.3154del | ENSP00000370355.3:p.Leu1052TrpfsTer10 | |
| ENST00000553713.5:c.324del | ||
| ENST00000555144.5:c.140del | ||
| ENST00000555671.1:n.700del | ||
| ENST00000556257.5:c.3154del | ENSP00000451540.1:p.Leu1052TrpfsTer10 | |
| ENST00000556740.5:c.3154del | ENSP00000452316.1:p.Leu1052TrpfsTer10 | |
| NM_001040108.1:c.3154del , LRG_217t1:c.3154del | NP_001035197.1:p.Leu1052TrpfsTer10 | |
| NM_014381.2:c.3154del | NP_055196.2:p.Leu1052TrpfsTer10 | |
| XM_005267531.3:c.3154del | XP_005267588.1:p.Leu1052TrpfsTer10 | |
| XM_005267532.3:c.3154del | XP_005267589.1:p.Leu1052TrpfsTer10 | |
| XM_005267533.3:c.3154del | XP_005267590.1:p.Leu1052TrpfsTer10 | |
| XM_005267534.2:c.3154del | XP_005267591.1:p.Leu1052TrpfsTer10 | |
| XM_006720116.2:c.3154del | XP_006720179.1:p.Leu1052TrpfsTer10 | |
| XM_011536646.1:c.3154del | XP_011534948.1:p.Leu1052TrpfsTer10 | |
| XM_011536647.1:c.3154del | XP_011534949.1:p.Leu1052TrpfsTer10 | |
| XM_011536648.1:c.3154del | XP_011534950.1:p.Leu1052TrpfsTer10 | |
| XR_245681.2:n.3370del | ||
| XM_005267532.5:c.3154del | XP_005267589.1:p.Leu1052TrpfsTer10 | |
| XM_005267533.5:c.3154del | XP_005267590.1:p.Leu1052TrpfsTer10 | |
| XM_005267534.3:c.3154del | XP_005267591.1:p.Leu1052TrpfsTer10 | |
| XM_006720116.4:c.3154del | XP_006720179.1:p.Leu1052TrpfsTer10 | |
| XM_011536646.3:c.3154del | XP_011534948.1:p.Leu1052TrpfsTer10 | |
| XM_017021219.2:c.3154del | XP_016876708.1:p.Leu1052TrpfsTer10 | |
| XM_024449538.1:c.3154del | XP_024305306.1:p.Leu1052TrpfsTer10 | |
| XR_001750225.2:n.3317del | ||
| XR_001750227.2:n.3317del | ||
| XR_001750228.2:n.3317del | ||
| XR_001750229.2:n.3317del | ||
| XR_001750230.2:n.3317del | ||
| XR_002957544.1:n.3317del | ||
| XR_245681.4:n.3317del | ||
| NM_001040108.2:c.3154del MANE Select | NP_001035197.1:p.Leu1052TrpfsTer10 | |
| NM_014381.3:c.3154del | NP_055196.2:p.Leu1052TrpfsTer10 |