Linked Data
ClinVar Variation Id:
422967
ClinVar RCV Id:
RCV000484218
dbSNP Id:
rs1064796130
MyVariant Identifiers:
chr11:g.77182110_77182113del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.77182110_77182113del , CM000673.2:g.77182110_77182113del | GRCh38 |
| NC_000011.8:g.76570804_76570807del | NCBI36 |
| NG_009086.1:g.58847_58850del | |
| NG_009086.2:g.58865_58868del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000409709.9:c.3064_3067del MANE Select | ENSP00000386331.3:p.Leu1022AsnfsTer? | |
| ENST00000409893.6:c.1129_1132del | ENSP00000386689.2:p.Leu377AsnfsTer? | |
| ENST00000670577.1:c.905_908del | ||
| ENST00000409619.6:c.3031_3034del | ENSP00000386635.2:p.Leu1011AsnfsTer? | |
| ENST00000409709.7:c.3064_3067del | ENSP00000386331.3:p.Leu1022AsnfsTer? | |
| ENST00000409893.5:c.3064_3067del | ENSP00000386689.1:p.Leu1022AsnfsTer? | |
| ENST00000458169.2:c.607_610del | ENSP00000417017.2:p.Leu203AsnfsTer? | |
| ENST00000458637.6:c.3064_3067del | ENSP00000392185.2:p.Leu1022AsnfsTer? | |
| ENST00000481328.7:n.607_610del | ||
| ENST00000620575.4:c.3064_3067del | ENSP00000477640.1:p.Leu1022AsnfsTer? | |
| NM_000260.3:c.3064_3067del | NP_000251.3:p.Leu1022AsnfsTer? | |
| NM_001127179.2:c.3064_3067del | NP_001120651.2:p.Leu1022AsnfsTer? | |
| NM_001127180.1:c.3064_3067del | NP_001120652.1:p.Leu1022AsnfsTer? | |
| XM_005274012.2:c.3064_3067del | XP_005274069.1:p.Leu1022AsnfsTer? | |
| XM_006718558.2:c.3064_3067del | XP_006718621.1:p.Leu1022AsnfsTer? | |
| XM_006718559.2:c.3064_3067del | XP_006718622.1:p.Leu1022AsnfsTer? | |
| XM_006718560.2:c.3064_3067del | XP_006718623.1:p.Leu1022AsnfsTer? | |
| XM_006718561.2:c.3064_3067del | XP_006718624.1:p.Leu1022AsnfsTer? | |
| XM_011545044.1:c.3064_3067del | XP_011543346.1:p.Leu1022AsnfsTer? | |
| XM_011545045.1:c.3064_3067del | XP_011543347.1:p.Leu1022AsnfsTer? | |
| XM_011545046.1:c.3031_3034del | XP_011543348.1:p.Leu1011AsnfsTer? | |
| XM_011545047.1:c.3064_3067del | XP_011543349.1:p.Leu1022AsnfsTer? | |
| XM_011545048.1:c.2845_2848del | XP_011543350.1:p.Leu949AsnfsTer? | |
| XM_011545049.1:c.2833_2836del | XP_011543351.1:p.Leu945AsnfsTer? | |
| XM_011545050.1:c.2806_2809del | XP_011543352.1:p.Leu936AsnfsTer? | |
| XM_011545051.1:c.3064_3067del | XP_011543353.1:p.Leu1022AsnfsTer? | |
| XM_011545052.1:c.3064_3067del | XP_011543354.1:p.Leu1022AsnfsTer? | |
| XR_949938.1:n.3384_3387del | ||
| XR_949941.1:n.3384_3387del | ||
| XR_949942.1:n.3386_3389del | ||
| XR_949943.1:n.3386_3389del | ||
| XM_011545044.2:c.3064_3067del | XP_011543346.1:p.Leu1022AsnfsTer? | |
| XM_011545046.2:c.3154_3157del | XP_011543348.2:p.Leu1052AsnfsTer? | |
| XM_011545050.2:c.2806_2809del | XP_011543352.1:p.Leu936AsnfsTer? | |
| XM_017017778.1:c.3154_3157del | XP_016873267.1:p.Leu1052AsnfsTer? | |
| XM_017017779.1:c.3154_3157del | XP_016873268.1:p.Leu1052AsnfsTer? | |
| XM_017017780.1:c.3154_3157del | XP_016873269.1:p.Leu1052AsnfsTer? | |
| XM_017017781.1:c.3154_3157del | XP_016873270.1:p.Leu1052AsnfsTer? | |
| XM_017017782.1:c.3154_3157del | XP_016873271.1:p.Leu1052AsnfsTer? | |
| XM_017017783.1:c.3154_3157del | XP_016873272.1:p.Leu1052AsnfsTer? | |
| XM_017017784.1:c.3154_3157del | XP_016873273.1:p.Leu1052AsnfsTer? | |
| XM_017017785.1:c.2923_2926del | XP_016873274.1:p.Leu975AsnfsTer? | |
| XM_017017786.1:c.3154_3157del | XP_016873275.1:p.Leu1052AsnfsTer? | |
| XM_017017787.1:c.3154_3157del | XP_016873276.1:p.Leu1052AsnfsTer? | |
| XM_017017788.1:c.3154_3157del | XP_016873277.1:p.Leu1052AsnfsTer? | |
| XR_001747885.1:n.3169_3172del | ||
| XR_001747886.1:n.3169_3172del | ||
| XR_001747887.1:n.3169_3172del | ||
| XR_001747888.1:n.3169_3172del | ||
| XR_001747889.1:n.3169_3172del | ||
| NM_000260.4:c.3064_3067del MANE Select | NP_000251.3:p.Leu1022AsnfsTer? | |
| NM_001127180.2:c.3064_3067del | NP_001120652.1:p.Leu1022AsnfsTer? | |
| NM_001369365.1:c.3031_3034del | NP_001356294.1:p.Leu1011AsnfsTer? |