Linked Data
ClinVar Variation Id:
1074190
ClinVar RCV Id:
RCV001387412
dbSNP Id:
rs2148839459
gnomAD v4:
4-127921551-ATATAGAG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.127921557_127921563del , CM000666.2:g.127921557_127921563del | GRCh38 |
| NC_000004.11:g.128842712_128842718del , CM000666.1:g.128842712_128842718del | GRCh37 |
| NC_000004.10:g.129062162_129062168del | NCBI36 |
| NG_008657.1:g.49427_49433del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296468.8:c.1316_1322del | ENSP00000296468.3:p.Thr439IlefsTer5 | |
| ENST00000509826.2:c.*637_*643del | ENSP00000421176.2:n.*637_*643del | |
| ENST00000513559.6:c.1034_1040del | ENSP00000425000.2:p.Thr345IlefsTer5 | |
| ENST00000515130.6:c.*201_*207del | ENSP00000493056.1:n.*201_*207del | |
| ENST00000641025.1:c.*201_*207del | ENSP00000493346.1:n.*201_*207del | |
| ENST00000641092.1:c.*201_*207del | ENSP00000493392.1:n.*201_*207del | |
| ENST00000641133.1:c.*630_*636del | ENSP00000493192.1:n.*630_*636del | |
| ENST00000641146.1:n.1182_1188del | ||
| ENST00000641147.1:c.866_872del | ENSP00000493133.1:p.Thr289IlefsTer5 | |
| ENST00000641178.1:c.1181_1187del | ENSP00000492989.1:p.Thr394IlefsTer5 | |
| ENST00000641186.1:c.1202_1208del | ENSP00000493347.1:p.Thr401IlefsTer5 | |
| ENST00000641228.1:c.*201_*207del | ENSP00000493194.1:n.*201_*207del | |
| ENST00000641332.1:c.*377_*383del | ENSP00000493397.1:n.*377_*383del | |
| ENST00000641340.1:c.*445_*451del | ENSP00000493191.1:n.*445_*451del | |
| ENST00000641388.1:n.563_569del | ||
| ENST00000641393.1:c.866_872del | ENSP00000493197.1:p.Thr289IlefsTer5 | |
| ENST00000641397.1:c.*201_*207del | ENSP00000493406.1:n.*201_*207del | |
| ENST00000641413.1:c.241_247del | ||
| ENST00000641434.1:c.1316_1322del | ENSP00000493279.1:p.Thr439IlefsTer5 | |
| ENST00000641464.1:c.*549_*555del | ENSP00000493438.1:n.*549_*555del | |
| ENST00000641482.1:c.*201_*207del | ENSP00000493277.1:n.*201_*207del | |
| ENST00000641508.1:c.*549_*555del | ENSP00000493209.1:n.*549_*555del | |
| ENST00000641509.1:c.1001_1007del | ENSP00000493459.1:p.Thr334IlefsTer5 | |
| ENST00000641590.1:c.*201_*207del | ENSP00000493132.1:n.*201_*207del | |
| ENST00000641658.1:c.*481_*487del | ENSP00000492987.1:n.*481_*487del | |
| ENST00000641686.2:c.1316_1322del MANE Select | ENSP00000493218.2:p.Thr439IlefsTer5 | |
| ENST00000641690.1:c.1115_1121del | ENSP00000492966.1:p.Thr372IlefsTer5 | |
| ENST00000641742.1:c.*481_*487del | ENSP00000493315.1:n.*481_*487del | |
| ENST00000641748.1:c.1316_1322del | ENSP00000493330.1:p.Thr439IlefsTer5 | |
| ENST00000641753.1:c.1143_1149del | ||
| ENST00000641774.1:c.*568_*574del | ENSP00000492960.1:n.*568_*574del | |
| ENST00000641830.1:c.548_554del | ||
| ENST00000641843.1:c.*377_*383del | ENSP00000493174.1:n.*377_*383del | |
| ENST00000641869.1:c.517_523del | ||
| ENST00000641870.1:c.*377_*383del | ENSP00000493044.1:n.*377_*383del | |
| ENST00000641882.1:c.*481_*487del | ENSP00000493301.1:n.*481_*487del | |
| ENST00000641928.1:c.*445_*451del | ENSP00000493418.1:n.*445_*451del | |
| ENST00000641949.1:c.554-722_554-716del | ENSP00000492891.1:n.554-722_554-716del | |
| ENST00000642012.1:n.1180_1186del | ||
| ENST00000642034.1:c.*201_*207del | ENSP00000493285.1:n.*201_*207del | |
| ENST00000642042.1:c.1316_1322del | ENSP00000493260.1:p.Thr439IlefsTer5 | |
| ENST00000642078.1:c.*377_*383del | ENSP00000492885.1:n.*377_*383del | |
| ENST00000296468.7:c.1316_1322del | ENSP00000296468.3:p.Thr439IlefsTer5 | |
| ENST00000504126.1:n.344_350del | ||
| ENST00000513559.5:c.1181_1187del | ENSP00000425000.1:p.Thr394IlefsTer5 | |
| ENST00000515130.5:n.1658_1664del | ||
| NM_152778.2:c.1316_1322del | NP_689991.1:p.Thr439IlefsTer5 | |
| XM_005262893.1:c.1316_1322del | XP_005262950.1:p.Thr439IlefsTer5 | |
| XM_005262896.1:c.1169_1175del | XP_005262953.1:p.Thr390IlefsTer5 | |
| XM_005262897.1:c.1115_1121del | XP_005262954.1:p.Thr372IlefsTer5 | |
| XM_005262898.2:c.*201_*207del | XP_005262955.1:n.*201_*207del | |
| XM_011531830.1:c.1202_1208del | XP_011530132.1:p.Thr401IlefsTer5 | |
| XM_011531831.1:c.1001_1007del | XP_011530133.1:p.Thr334IlefsTer5 | |
| XM_011531832.1:c.*201_*207del | XP_011530134.1:n.*201_*207del | |
| XR_938717.1:n.1393_1399del | ||
| NM_001363520.1:c.1115_1121del | NP_001350449.1:p.Thr372IlefsTer5 | |
| NM_001363521.1:c.1001_1007del | NP_001350450.1:p.Thr334IlefsTer5 | |
| XM_005262898.3:c.*201_*207del | XP_005262955.1:n.*201_*207del | |
| XM_017007989.1:c.*201_*207del | XP_016863478.1:n.*201_*207del | |
| XM_024453981.1:c.1181_1187del | XP_024309749.1:p.Thr394IlefsTer5 | |
| XM_024453982.1:c.1067_1073del | XP_024309750.1:p.Thr356IlefsTer5 | |
| XM_024453983.1:c.866_872del | XP_024309751.1:p.Thr289IlefsTer5 | |
| XR_001741194.1:n.1289_1295del | ||
| XR_001741195.1:n.1175_1181del | ||
| XR_001741196.1:n.1088_1094del | ||
| XR_001741197.1:n.1248_1254del | ||
| XR_001741198.2:n.1144_1150del | ||
| XR_001741199.1:n.1144_1150del | ||
| XR_938717.2:n.1393_1399del | ||
| NM_001363520.2:c.1115_1121del | NP_001350449.1:p.Thr372IlefsTer5 | |
| NM_001363521.2:c.1001_1007del | NP_001350450.1:p.Thr334IlefsTer5 | |
| NM_001371590.1:c.1181_1187del | NP_001358519.1:p.Thr394IlefsTer5 | |
| NM_001371591.1:c.1316_1322del | NP_001358520.1:p.Thr439IlefsTer5 | |
| NM_001371592.1:c.1322_1328del | NP_001358521.1:p.Thr441IlefsTer5 | |
| NM_001371593.1:c.1202_1208del | NP_001358522.1:p.Thr401IlefsTer5 | |
| NM_001371594.1:c.1169_1175del | NP_001358523.1:p.Thr390IlefsTer5 | |
| NM_001371595.1:c.1034_1040del | NP_001358524.1:p.Thr345IlefsTer5 | |
| NM_001371596.2:c.1316_1322del MANE Select | NP_001358525.1:p.Thr439IlefsTer5 | |
| NM_152778.3:c.1316_1322del | NP_689991.1:p.Thr439IlefsTer5 | |
| NM_152778.4:c.1316_1322del | NP_689991.1:p.Thr439IlefsTer5 |