Linked Data
ClinVar Variation Id:
162381
ClinVar RCV Id:
RCV000149776
dbSNP Id:
rs727502801
PubMed:
PMID:19177532
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.127932981_127932982insA , CM000666.2:g.127932981_127932982insA | GRCh38 |
| NC_000004.11:g.128854136_128854137insA , CM000666.1:g.128854136_128854137insA | GRCh37 |
| NC_000004.10:g.129073586_129073587insA | NCBI36 |
| NG_008657.1:g.38003_38004insT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000296468.8:c.863+3_863+4insT | ENSP00000296468.3:n.863+3_863+4insT | |
| ENST00000505284.6:n.1082_1083insT | ||
| ENST00000509826.2:c.*96+3_*96+4insT | ENSP00000421176.2:n.*96+3_*96+4insT | |
| ENST00000513559.6:c.581+3_581+4insT | ENSP00000425000.2:n.581+3_581+4insT | |
| ENST00000515130.6:c.728+3_728+4insT | ENSP00000493056.1:n.728+3_728+4insT | |
| ENST00000641003.1:n.253+3_253+4insT | ||
| ENST00000641025.1:c.863+3_863+4insT | ENSP00000493346.1:n.863+3_863+4insT | |
| ENST00000641092.1:c.662+3_662+4insT | ENSP00000493392.1:n.662+3_662+4insT | |
| ENST00000641133.1:c.*177+3_*177+4insT | ENSP00000493192.1:n.*177+3_*177+4insT | |
| ENST00000641134.1:c.*31_*32insT | ENSP00000492925.1:n.*31_*32insT | |
| ENST00000641146.1:n.729+3_729+4insT | ||
| ENST00000641147.1:c.413+3_413+4insT | ENSP00000493133.1:n.413+3_413+4insT | |
| ENST00000641178.1:c.728+3_728+4insT | ENSP00000492989.1:n.728+3_728+4insT | |
| ENST00000641186.1:c.749+3_749+4insT | ENSP00000493347.1:n.749+3_749+4insT | |
| ENST00000641228.1:c.662+3_662+4insT | ENSP00000493194.1:n.662+3_662+4insT | |
| ENST00000641243.1:c.*31_*32insT | ENSP00000493083.1:n.*31_*32insT | |
| ENST00000641332.1:c.*28+3_*28+4insT | ENSP00000493397.1:n.*28+3_*28+4insT | |
| ENST00000641340.1:c.*96+3_*96+4insT | ENSP00000493191.1:n.*96+3_*96+4insT | |
| ENST00000641369.1:c.359+3_359+4insT | ENSP00000493037.1:n.359+3_359+4insT | |
| ENST00000641388.1:n.214+3_214+4insT | ||
| ENST00000641393.1:c.413+3_413+4insT | ENSP00000493197.1:n.413+3_413+4insT | |
| ENST00000641397.1:c.548+3_548+4insT | ENSP00000493406.1:n.548+3_548+4insT | |
| ENST00000641434.1:c.863+3_863+4insT | ENSP00000493279.1:n.863+3_863+4insT | |
| ENST00000641464.1:c.*96+3_*96+4insT | ENSP00000493438.1:n.*96+3_*96+4insT | |
| ENST00000641482.1:c.863+3_863+4insT | ENSP00000493277.1:n.863+3_863+4insT | |
| ENST00000641503.1:c.752_753insT | ENSP00000493304.1:p.Ter251TyrextTer19 | |
| ENST00000641508.1:c.*96+3_*96+4insT | ENSP00000493209.1:n.*96+3_*96+4insT | |
| ENST00000641509.1:c.548+3_548+4insT | ENSP00000493459.1:n.548+3_548+4insT | |
| ENST00000641538.1:c.709+3_709+4insT | ||
| ENST00000641590.1:c.749+3_749+4insT | ENSP00000493132.1:n.749+3_749+4insT | |
| ENST00000641658.1:c.*28+3_*28+4insT | ENSP00000492987.1:n.*28+3_*28+4insT | |
| ENST00000641686.2:c.863+3_863+4insT MANE Select | ENSP00000493218.2:n.863+3_863+4insT | |
| ENST00000641690.1:c.662+3_662+4insT | ENSP00000492966.1:n.662+3_662+4insT | |
| ENST00000641695.1:c.*150_*151insT | ENSP00000493134.1:n.*150_*151insT | |
| ENST00000641742.1:c.*28+3_*28+4insT | ENSP00000493315.1:n.*28+3_*28+4insT | |
| ENST00000641743.1:c.866_867insT | ENSP00000493130.1:p.Ter289TyrextTer19 | |
| ENST00000641748.1:c.863+3_863+4insT | ENSP00000493330.1:n.863+3_863+4insT | |
| ENST00000641753.1:c.690+3_690+4insT | ||
| ENST00000641774.1:c.*96+3_*96+4insT | ENSP00000492960.1:n.*96+3_*96+4insT | |
| ENST00000641830.1:c.199+3_199+4insT | ||
| ENST00000641843.1:c.*28+3_*28+4insT | ENSP00000493174.1:n.*28+3_*28+4insT | |
| ENST00000641869.1:c.168+3_168+4insT | ||
| ENST00000641870.1:c.*28+3_*28+4insT | ENSP00000493044.1:n.*28+3_*28+4insT | |
| ENST00000641882.1:c.*28+3_*28+4insT | ENSP00000493301.1:n.*28+3_*28+4insT | |
| ENST00000641928.1:c.*96+3_*96+4insT | ENSP00000493418.1:n.*96+3_*96+4insT | |
| ENST00000641949.1:c.553+9063_553+9064insT | ENSP00000492891.1:n.553+9063_553+9064insT... | |
| ENST00000642012.1:n.727+3_727+4insT | ||
| ENST00000642034.1:c.749+3_749+4insT | ENSP00000493285.1:n.749+3_749+4insT | |
| ENST00000642042.1:c.863+3_863+4insT | ENSP00000493260.1:n.863+3_863+4insT | |
| ENST00000642078.1:c.*28+3_*28+4insT | ENSP00000492885.1:n.*28+3_*28+4insT | |
| ENST00000642121.1:n.91-2165_91-2164insT | ||
| ENST00000296468.7:c.863+3_863+4insT | ENSP00000296468.3:n.863+3_863+4insT | |
| ENST00000505284.5:n.758+3_758+4insT | ||
| ENST00000509826.1:c.*96+3_*96+4insT | ENSP00000421176.1:n.*96+3_*96+4insT | |
| ENST00000513559.5:c.728+3_728+4insT | ENSP00000425000.1:n.728+3_728+4insT | |
| ENST00000515130.5:n.1309+3_1309+4insT | ||
| NM_152778.2:c.863+3_863+4insT | NP_689991.1:n.863+3_863+4insT | |
| XM_005262893.1:c.863+3_863+4insT | XP_005262950.1:n.863+3_863+4insT | |
| XM_005262896.1:c.716+3_716+4insT | XP_005262953.1:n.716+3_716+4insT | |
| XM_005262897.1:c.662+3_662+4insT | XP_005262954.1:n.662+3_662+4insT | |
| XM_005262898.2:c.863+3_863+4insT | XP_005262955.1:n.863+3_863+4insT | |
| XM_005262900.2:c.*28+3_*28+4insT | XP_005262957.1:n.*28+3_*28+4insT | |
| XM_011531830.1:c.749+3_749+4insT | XP_011530132.1:n.749+3_749+4insT | |
| XM_011531831.1:c.548+3_548+4insT | XP_011530133.1:n.548+3_548+4insT | |
| XM_011531832.1:c.749+3_749+4insT | XP_011530134.1:n.749+3_749+4insT | |
| XR_938717.1:n.940+3_940+4insT | ||
| NM_001363520.1:c.662+3_662+4insT | NP_001350449.1:n.662+3_662+4insT | |
| NM_001363521.1:c.548+3_548+4insT | NP_001350450.1:n.548+3_548+4insT | |
| XM_005262898.3:c.863+3_863+4insT | XP_005262955.1:n.863+3_863+4insT | |
| XM_017007989.1:c.662+3_662+4insT | XP_016863478.1:n.662+3_662+4insT | |
| XM_024453981.1:c.728+3_728+4insT | XP_024309749.1:n.728+3_728+4insT | |
| XM_024453982.1:c.614+3_614+4insT | XP_024309750.1:n.614+3_614+4insT | |
| XM_024453983.1:c.413+3_413+4insT | XP_024309751.1:n.413+3_413+4insT | |
| XR_001741194.1:n.940+3_940+4insT | ||
| XR_001741195.1:n.826+3_826+4insT | ||
| XR_001741196.1:n.739+3_739+4insT | ||
| XR_001741197.1:n.795+3_795+4insT | ||
| XR_001741198.2:n.795+3_795+4insT | ||
| XR_001741199.1:n.795+3_795+4insT | ||
| XR_938717.2:n.940+3_940+4insT | ||
| NM_001363520.2:c.662+3_662+4insT | NP_001350449.1:n.662+3_662+4insT | |
| NM_001363521.2:c.548+3_548+4insT | NP_001350450.1:n.548+3_548+4insT | |
| NM_001371590.1:c.728+3_728+4insT | NP_001358519.1:n.728+3_728+4insT | |
| NM_001371591.1:c.863+3_863+4insT | NP_001358520.1:n.863+3_863+4insT | |
| NM_001371592.1:c.869+3_869+4insT | NP_001358521.1:n.869+3_869+4insT | |
| NM_001371593.1:c.749+3_749+4insT | NP_001358522.1:n.749+3_749+4insT | |
| NM_001371594.1:c.716+3_716+4insT | NP_001358523.1:n.716+3_716+4insT | |
| NM_001371595.1:c.581+3_581+4insT | NP_001358524.1:n.581+3_581+4insT | |
| NM_001371596.2:c.863+3_863+4insT MANE Select | NP_001358525.1:n.863+3_863+4insT | |
| NM_152778.3:c.863+3_863+4insT | NP_689991.1:n.863+3_863+4insT | |
| NM_152778.4:c.863+3_863+4insT | NP_689991.1:n.863+3_863+4insT |