Linked Data
ClinVar Variation Id:
45865
dbSNP Id:
rs397517305
gnomAD v4:
10-71645934-TGGCCATCCCACTGGACTACGA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71645936_71645956del , CM000672.2:g.71645936_71645956del | GRCh38 |
| NC_000010.10:g.73405693_73405713del , CM000672.1:g.73405693_73405713del | GRCh37 |
| NC_000010.9:g.73075699_73075719del | NCBI36 |
| NG_008835.1:g.253990_254010del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000224721.12:c.1246_1266del MANE Select | ENSP00000224721.9:p.Ala416_Glu422del | |
| ENST00000398809.9:c.1246_1266del | ENSP00000381789.5:p.Ala416_Glu422del | |
| ENST00000442677.4:c.1246_1266del | ENSP00000388894.3:p.Ala416_Glu422del | |
| ENST00000466757.8:c.677_697del | ||
| ENST00000643732.1:n.1082_1102del | ||
| ENST00000646131.1:c.910_930del | ENSP00000495098.1:p.Ala304_Glu310del | |
| ENST00000224721.10:c.1261_1281del | ENSP00000224721.8:p.Ala421_Glu427del | |
| ENST00000299366.11:c.1246_1266del | ENSP00000299366.8:p.Ala416_Glu422del | |
| ENST00000398809.8:c.1246_1266del | ENSP00000381789.5:p.Ala416_Glu422del | |
| ENST00000398842.7:c.991_1011del | ENSP00000381822.4:p.Ala331_Glu337del | |
| ENST00000442677.3:c.21_41del | ||
| ENST00000461841.7:c.1246_1266del | ENSP00000473454.2:p.Ala416_Glu422del | |
| ENST00000466757.7:c.677_697del | ||
| ENST00000470494.5:c.215_235del | ||
| ENST00000616684.4:c.1246_1266del | ENSP00000482036.2:p.Ala416_Glu422del | |
| ENST00000622827.4:c.1246_1266del | ENSP00000483211.1:p.Ala416_Glu422del | |
| NM_001171930.1:c.1246_1266del | NP_001165401.1:p.Ala416_Glu422del | |
| NM_001171931.1:c.1246_1266del | NP_001165402.1:p.Ala416_Glu422del | |
| NM_022124.5:c.1246_1266del | NP_071407.4:p.Ala416_Glu422del | |
| NM_052836.3:c.1246_1266del | NP_443068.1:p.Ala416_Glu422del | |
| XM_006717940.2:c.1441_1461del | XP_006718003.1:p.Ala481_Glu487del | |
| XM_006717942.2:c.1375_1395del | XP_006718005.1:p.Ala459_Glu465del | |
| XM_011540039.1:c.1441_1461del | XP_011538341.1:p.Ala481_Glu487del | |
| XM_011540040.1:c.1435_1455del | XP_011538342.1:p.Ala479_Glu485del | |
| XM_011540041.1:c.1381_1401del | XP_011538343.1:p.Ala461_Glu467del | |
| XM_011540042.1:c.1441_1461del | XP_011538344.1:p.Ala481_Glu487del | |
| XM_011540043.1:c.1441_1461del | XP_011538345.1:p.Ala481_Glu487del | |
| XM_011540044.1:c.1306_1326del | XP_011538346.1:p.Ala436_Glu442del | |
| XM_011540045.1:c.1441_1461del | XP_011538347.1:p.Ala481_Glu487del | |
| XM_011540046.1:c.901_921del | XP_011538348.1:p.Ala301_Glu307del | |
| XM_011540047.1:c.259_279del | XP_011538349.1:p.Ala87_Glu93del | |
| XM_011540048.1:c.1441_1461del | XP_011538350.1:p.Ala481_Glu487del | |
| XM_011540049.1:c.1441_1461del | XP_011538351.1:p.Ala481_Glu487del | |
| XM_011540050.1:c.1441_1461del | XP_011538352.1:p.Ala481_Glu487del | |
| XM_011540051.1:c.1441_1461del | XP_011538353.1:p.Ala481_Glu487del | |
| XM_011540053.1:c.1441_1461del | XP_011538355.1:p.Ala481_Glu487del | |
| XM_011540054.1:c.1381_1401del | XP_011538356.1:p.Ala461_Glu467del | |
| XR_945796.1:n.1684_1704del | ||
| NM_001171930.2:c.1246_1266del | NP_001165401.1:p.Ala416_Glu422del | |
| NM_001171931.2:c.1246_1266del | NP_001165402.1:p.Ala416_Glu422del | |
| NM_022124.6:c.1246_1266del MANE Select | NP_071407.4:p.Ala416_Glu422del | |
| NM_052836.4:c.1246_1266del | NP_443068.1:p.Ala416_Glu422del |