Linked Data
ClinVar Variation Id:
425564
ClinVar RCV Id:
RCV000488451
dbSNP Id:
rs1085307132
MyVariant Identifiers:
chr8:g.143817668_143817669insTTTT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.143817669_143817670insTTTT , CM000670.2:g.143817669_143817670insTTTT | GRCh38 |
| NC_000008.9:g.144971827_144971828insTTTT | NCBI36 |
| NG_030583.1:g.2711_2712insAAAA | |
| NG_033879.1:g.16718_16719insAAAA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000524570.6:n.1629_1630insAAAA | ||
| ENST00000526151.6:n.2986_2987insAAAA | ||
| ENST00000526459.6:c.877_878insAAAA | ENSP00000432610.2:p.Thr293LysfsTer? | |
| ENST00000527744.6:c.928_929insAAAA | ENSP00000436131.2:p.Thr310LysfsTer? | |
| ENST00000531951.6:c.802_803insAAAA | ENSP00000515500.1:p.Thr268LysfsTer? | |
| ENST00000532127.6:c.*776_*777insAAAA | ENSP00000515484.1:n.*776_*777insAAAA | |
| ENST00000533162.2:c.1042_1043insAAAA | ENSP00000433403.2:p.Thr348LysfsTer? | |
| ENST00000533362.2:c.1006_1007insAAAA | ENSP00000515502.1:p.Thr336LysfsTer? | |
| ENST00000703744.1:n.1642_1643insAAAA | ||
| ENST00000703803.1:n.1196_1197insAAAA | ||
| ENST00000703846.1:c.802_803insAAAA | ENSP00000515498.1:p.Thr268LysfsTer? | |
| ENST00000703847.1:c.1042_1043insAAAA | ENSP00000515499.1:p.Thr348LysfsTer? | |
| ENST00000703848.1:n.962_963insAAAA | ||
| ENST00000703849.1:c.802_803insAAAA | ENSP00000515501.1:p.Thr268LysfsTer? | |
| ENST00000703850.1:c.1006_1007insAAAA | ENSP00000515503.1:p.Thr336LysfsTer? | |
| ENST00000703851.1:n.851_852insAAAA | ||
| ENST00000703866.1:c.931_932insAAAA | ENSP00000515511.1:p.Thr311LysfsTer? | |
| ENST00000526683.6:c.931_932insAAAA MANE Select | ENSP00000434359.1:p.Thr311LysfsTer? | |
| ENST00000313352.11:c.751_752insAAAA | ENSP00000322016.7:p.Thr251LysfsTer? | |
| ENST00000349157.10:c.880_881insAAAA | ENSP00000322036.7:p.Thr294LysfsTer? | |
| ENST00000453551.6:c.802_803insAAAA | ENSP00000402953.2:p.Thr268LysfsTer? | |
| ENST00000456095.6:c.844_845insAAAA | ENSP00000395417.2:p.Thr282LysfsTer? | |
| ENST00000524570.5:n.1617_1618insAAAA | ||
| ENST00000526459.5:c.877_878insAAAA | ENSP00000432610.1:p.Thr293LysfsTer? | |
| ENST00000526683.5:c.931_932insAAAA | ENSP00000434359.1:p.Thr311LysfsTer? | |
| ENST00000527197.5:c.793_794insAAAA | ENSP00000431960.1:p.Thr265LysfsTer? | |
| ENST00000527744.5:c.924_925insAAAA | ||
| ENST00000532884.1:c.540_541insAAAA | ||
| NM_001136033.2:c.802_803insAAAA | NP_001129505.1:p.Thr268LysfsTer? | |
| NM_001271096.1:c.877_878insAAAA | NP_001258025.1:p.Thr293LysfsTer? | |
| NM_001271097.1:c.793_794insAAAA | NP_001258026.1:p.Thr265LysfsTer? | |
| NM_001271098.1:c.928_929insAAAA | NP_001258027.1:p.Thr310LysfsTer? | |
| NM_001271099.1:c.844_845insAAAA | NP_001258028.1:p.Thr282LysfsTer? | |
| NM_001271100.1:c.751_752insAAAA | NP_001258029.1:p.Thr251LysfsTer? | |
| NM_014281.4:c.880_881insAAAA | NP_055096.2:p.Thr294LysfsTer? | |
| NM_078480.2:c.931_932insAAAA | NP_510965.1:p.Thr311LysfsTer? | |
| XM_011516929.1:c.1042_1043insAAAA | XP_011515231.1:p.Thr348LysfsTer? | |
| XM_011516930.1:c.991_992insAAAA | XP_011515232.1:p.Thr331LysfsTer? | |
| NM_001362895.1:c.1042_1043insAAAA | NP_001349824.1:p.Thr348LysfsTer? | |
| NM_001362896.1:c.1042_1043insAAAA | NP_001349825.1:p.Thr348LysfsTer? | |
| NM_001362897.1:c.991_992insAAAA | NP_001349826.1:p.Thr331LysfsTer? | |
| XM_017013234.1:c.1042_1043insAAAA | XP_016868723.1:p.Thr348LysfsTer? | |
| XM_017013235.1:c.1006_1007insAAAA | XP_016868724.1:p.Thr336LysfsTer? | |
| XM_017013236.1:c.991_992insAAAA | XP_016868725.1:p.Thr331LysfsTer? | |
| XM_017013239.1:c.802_803insAAAA | XP_016868728.1:p.Thr268LysfsTer? | |
| XM_017013240.1:c.751_752insAAAA | XP_016868729.1:p.Thr251LysfsTer? | |
| NM_001136033.3:c.802_803insAAAA | NP_001129505.1:p.Thr268LysfsTer? | |
| NM_001271096.2:c.877_878insAAAA | NP_001258025.1:p.Thr293LysfsTer? | |
| NM_001271097.2:c.793_794insAAAA | NP_001258026.1:p.Thr265LysfsTer? | |
| NM_001271098.2:c.928_929insAAAA | NP_001258027.1:p.Thr310LysfsTer? | |
| NM_001271099.2:c.844_845insAAAA | NP_001258028.1:p.Thr282LysfsTer? | |
| NM_001271100.2:c.751_752insAAAA | NP_001258029.1:p.Thr251LysfsTer? | |
| NM_001362895.2:c.1042_1043insAAAA | NP_001349824.1:p.Thr348LysfsTer? | |
| NM_001362896.2:c.1042_1043insAAAA | NP_001349825.1:p.Thr348LysfsTer? | |
| NM_001362897.2:c.991_992insAAAA | NP_001349826.1:p.Thr331LysfsTer? | |
| NM_014281.5:c.880_881insAAAA | NP_055096.2:p.Thr294LysfsTer? | |
| NM_078480.3:c.931_932insAAAA MANE Select | NP_510965.1:p.Thr311LysfsTer? |