Linked Data
ClinVar Variation Id:
372836
ClinVar RCV Id:
RCV000413995
dbSNP Id:
rs1057518014
MyVariant Identifiers:
chr8:g.143817103_143817107del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.143817105_143817109del , CM000670.2:g.143817105_143817109del | GRCh38 |
| NC_000008.9:g.144971263_144971267del | NCBI36 |
| NG_030583.1:g.3273_3277del | |
| NG_033879.1:g.17280_17284del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000524570.6:n.1881_1885del | ||
| ENST00000526151.6:n.3238_3242del | ||
| ENST00000526459.6:c.1129_1133del | ENSP00000432610.2:p.Pro377GlyfsTer? | |
| ENST00000527744.6:c.1180_1184del | ENSP00000436131.2:p.Pro394GlyfsTer? | |
| ENST00000531951.6:c.1054_1058del | ENSP00000515500.1:p.Pro352GlyfsTer? | |
| ENST00000532127.6:c.*1028_*1032del | ENSP00000515484.1:n.*1028_*1032del | |
| ENST00000533162.2:c.1294_1298del | ENSP00000433403.2:p.Pro432GlyfsTer? | |
| ENST00000533362.2:c.1258_1262del | ENSP00000515502.1:p.Pro420GlyfsTer? | |
| ENST00000703744.1:n.1894_1898del | ||
| ENST00000703803.1:n.1448_1452del | ||
| ENST00000703846.1:c.1054_1058del | ENSP00000515498.1:p.Pro352GlyfsTer? | |
| ENST00000703847.1:c.1294_1298del | ENSP00000515499.1:p.Pro432GlyfsTer? | |
| ENST00000703848.1:n.1214_1218del | ||
| ENST00000703849.1:c.1054_1058del | ENSP00000515501.1:p.Pro352GlyfsTer? | |
| ENST00000703850.1:c.1258_1262del | ENSP00000515503.1:p.Pro420GlyfsTer? | |
| ENST00000703851.1:n.1103_1107del | ||
| ENST00000703866.1:c.1183_1187del | ENSP00000515511.1:p.Pro395GlyfsTer? | |
| ENST00000526683.6:c.1183_1187del MANE Select | ENSP00000434359.1:p.Pro395GlyfsTer? | |
| ENST00000313352.11:c.1003_1007del | ENSP00000322016.7:p.Pro335GlyfsTer? | |
| ENST00000349157.10:c.1132_1136del | ENSP00000322036.7:p.Pro378GlyfsTer? | |
| ENST00000453551.6:c.1054_1058del | ENSP00000402953.2:p.Pro352GlyfsTer? | |
| ENST00000456095.6:c.1096_1100del | ENSP00000395417.2:p.Pro366GlyfsTer? | |
| ENST00000524570.5:n.1869_1873del | ||
| ENST00000526683.5:c.1183_1187del | ENSP00000434359.1:p.Pro395GlyfsTer? | |
| ENST00000527197.5:c.1045_1049del | ENSP00000431960.1:p.Pro349GlyfsTer? | |
| ENST00000532884.1:c.792_796del | ||
| NM_001136033.2:c.1054_1058del | NP_001129505.1:p.Pro352GlyfsTer? | |
| NM_001271096.1:c.1129_1133del | NP_001258025.1:p.Pro377GlyfsTer? | |
| NM_001271097.1:c.1045_1049del | NP_001258026.1:p.Pro349GlyfsTer? | |
| NM_001271098.1:c.1180_1184del | NP_001258027.1:p.Pro394GlyfsTer? | |
| NM_001271099.1:c.1096_1100del | NP_001258028.1:p.Pro366GlyfsTer? | |
| NM_001271100.1:c.1003_1007del | NP_001258029.1:p.Pro335GlyfsTer? | |
| NM_014281.4:c.1132_1136del | NP_055096.2:p.Pro378GlyfsTer? | |
| NM_078480.2:c.1183_1187del | NP_510965.1:p.Pro395GlyfsTer? | |
| XM_011516929.1:c.1294_1298del | XP_011515231.1:p.Pro432GlyfsTer? | |
| XM_011516930.1:c.1243_1247del | XP_011515232.1:p.Pro415GlyfsTer? | |
| NM_001362895.1:c.1294_1298del | NP_001349824.1:p.Pro432GlyfsTer? | |
| NM_001362896.1:c.1294_1298del | NP_001349825.1:p.Pro432GlyfsTer? | |
| NM_001362897.1:c.1243_1247del | NP_001349826.1:p.Pro415GlyfsTer? | |
| XM_017013234.1:c.1294_1298del | XP_016868723.1:p.Pro432GlyfsTer? | |
| XM_017013235.1:c.1258_1262del | XP_016868724.1:p.Pro420GlyfsTer? | |
| XM_017013236.1:c.1243_1247del | XP_016868725.1:p.Pro415GlyfsTer? | |
| XM_017013239.1:c.1054_1058del | XP_016868728.1:p.Pro352GlyfsTer? | |
| XM_017013240.1:c.1003_1007del | XP_016868729.1:p.Pro335GlyfsTer? | |
| NM_001136033.3:c.1054_1058del | NP_001129505.1:p.Pro352GlyfsTer? | |
| NM_001271096.2:c.1129_1133del | NP_001258025.1:p.Pro377GlyfsTer? | |
| NM_001271097.2:c.1045_1049del | NP_001258026.1:p.Pro349GlyfsTer? | |
| NM_001271098.2:c.1180_1184del | NP_001258027.1:p.Pro394GlyfsTer? | |
| NM_001271099.2:c.1096_1100del | NP_001258028.1:p.Pro366GlyfsTer? | |
| NM_001271100.2:c.1003_1007del | NP_001258029.1:p.Pro335GlyfsTer? | |
| NM_001362895.2:c.1294_1298del | NP_001349824.1:p.Pro432GlyfsTer? | |
| NM_001362896.2:c.1294_1298del | NP_001349825.1:p.Pro432GlyfsTer? | |
| NM_001362897.2:c.1243_1247del | NP_001349826.1:p.Pro415GlyfsTer? | |
| NM_014281.5:c.1132_1136del | NP_055096.2:p.Pro378GlyfsTer? | |
| NM_078480.3:c.1183_1187del MANE Select | NP_510965.1:p.Pro395GlyfsTer? |