Linked Data
ClinVar Variation Id:
927163
ClinVar RCV Id:
RCV001318570
dbSNP Id:
rs1811866878
gnomAD v4:
8-89978265-AATTCAGTAAAAT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.89978270_89978281del , CM000670.2:g.89978270_89978281del | GRCh38 |
| NC_000008.10:g.90990498_90990509del , CM000670.1:g.90990498_90990509del | GRCh37 |
| NC_000008.9:g.91059674_91059685del | NCBI36 |
| NG_008860.1:g.11395_11406del , LRG_158:g.11395_11406del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000494804.2:n.1829_1840del | ||
| ENST00000517337.2:c.281_292del | ENSP00000429971.2:p.Tyr94_Glu97del | |
| ENST00000523444.2:c.281_292del | ENSP00000428252.2:p.Tyr94_Glu97del | |
| ENST00000697292.1:c.527_538del | ENSP00000513229.1:p.Tyr176_Glu179del | |
| ENST00000697293.1:c.527_538del | ENSP00000513230.1:p.Tyr176_Glu179del | |
| ENST00000697294.1:c.*138_*149del | ENSP00000513231.1:n.*138_*149del | |
| ENST00000697295.1:c.37+6248_37+6259del | ENSP00000513232.1:n.37+6248_37+6259del | |
| ENST00000697296.1:c.*195_*206del | ENSP00000513233.1:n.*195_*206del | |
| ENST00000697297.1:n.2312_2323del | ||
| ENST00000697298.1:c.281_292del | ENSP00000513234.1:p.Tyr94_Glu97del | |
| ENST00000697299.1:c.281_292del | ENSP00000513235.1:p.Tyr94_Glu97del | |
| ENST00000697300.1:c.*131_*142del | ENSP00000513236.1:n.*131_*142del | |
| ENST00000697301.1:c.*48_*59del | ENSP00000513237.1:n.*48_*59del | |
| ENST00000697302.1:c.*48_*59del | ENSP00000513238.1:n.*48_*59del | |
| ENST00000697303.1:c.*131_*142del | ENSP00000513239.1:n.*131_*142del | |
| ENST00000697304.1:c.527_538del | ENSP00000513240.1:p.Tyr176_Glu179del | |
| ENST00000697306.1:c.480+2457_480+2468del | ENSP00000513241.1:n.480+2457_480+2468del | |
| ENST00000697307.1:c.527_538del | ENSP00000513242.1:p.Tyr176_Glu179del | |
| ENST00000697308.1:c.527_538del | ENSP00000513243.1:p.Tyr176_Glu179del | |
| ENST00000697309.1:c.527_538del | ENSP00000513244.1:p.Tyr176_Glu179del | |
| ENST00000697310.1:c.527_538del | ENSP00000513245.1:p.Tyr176_Glu179del | |
| ENST00000697311.1:c.527_538del | ENSP00000513246.1:p.Tyr176_Glu179del | |
| ENST00000697312.1:c.480+2457_480+2468del | ENSP00000513247.1:n.480+2457_480+2468del | |
| ENST00000697313.1:n.2318_2329del | ||
| ENST00000697314.1:n.2318_2329del | ||
| ENST00000697315.1:c.527_538del | ENSP00000513248.1:p.Tyr176_Glu179del | |
| ENST00000697316.1:n.648_659del | ||
| ENST00000697317.1:n.637_648del | ||
| ENST00000697318.1:n.639_650del | ||
| ENST00000265433.8:c.527_538del MANE Select | ENSP00000265433.4:p.Tyr176_Glu179del | |
| ENST00000265433.7:c.527_538del | ENSP00000265433.3:p.Tyr176_Glu179del | |
| ENST00000396252.6:c.*400_*411del | ENSP00000379551.2:n.*400_*411del | |
| ENST00000409330.5:c.281_292del | ENSP00000386924.1:p.Tyr94_Glu97del | |
| ENST00000517772.5:c.281_292del | ENSP00000428717.1:p.Tyr94_Glu97del | |
| ENST00000519426.5:c.320+3098_320+3109del | ENSP00000430983.1:n.320+3098_320+3109del | |
| NM_001024688.2:c.281_292del | NP_001019859.1:p.Tyr94_Glu97del | |
| NM_002485.4:c.527_538del , LRG_158t1:c.527_538del | NP_002476.2:p.Tyr176_Glu179del | |
| XM_011517044.1:c.503_514del | XP_011515346.1:p.Tyr168_Glu171del | |
| XM_011517045.1:c.281_292del | XP_011515347.1:p.Tyr94_Glu97del | |
| XM_011517046.1:c.527_538del | XP_011515348.1:p.Tyr176_Glu179del | |
| XR_928335.1:n.664_675del | ||
| XM_017013460.1:c.-353_-342del | XP_016868949.1:n.-353_-342del | |
| XM_017013462.2:c.-296+2457_-296+2468del | XP_016868951.1:n.-296+2457_-296+2468del | |
| XM_024447163.1:c.281_292del | XP_024302931.1:p.Tyr94_Glu97del | |
| XM_024447164.1:c.281_292del | XP_024302932.1:p.Tyr94_Glu97del | |
| XM_024447165.1:c.-353_-342del | XP_024302933.1:n.-353_-342del | |
| NM_002485.5:c.527_538del MANE Select | NP_002476.2:p.Tyr176_Glu179del | |
| NM_001024688.3:c.281_292del | NP_001019859.1:p.Tyr94_Glu97del |