Linked Data
ClinVar Variation Id:
425572
ClinVar RCV Id:
RCV000488450
dbSNP Id:
rs1085307139
PubMed:
PMID:28327570
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.143817383dup , CM000670.2:g.143817383dup | GRCh38 |
| NC_000008.9:g.144971541dup | NCBI36 |
| NG_030583.1:g.2999dup | |
| NG_033879.1:g.17006dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000524570.6:n.1792dup | ||
| ENST00000526151.6:n.3149dup | ||
| ENST00000526459.6:c.1040dup | ENSP00000432610.2:p.Thr348HisfsTer? | |
| ENST00000527744.6:c.1091dup | ENSP00000436131.2:p.Thr365HisfsTer? | |
| ENST00000531951.6:c.965dup | ENSP00000515500.1:p.Thr323HisfsTer? | |
| ENST00000532127.6:c.*939dup | ENSP00000515484.1:n.*939dup | |
| ENST00000533162.2:c.1205dup | ENSP00000433403.2:p.Thr403HisfsTer? | |
| ENST00000533362.2:c.1169dup | ENSP00000515502.1:p.Thr391HisfsTer? | |
| ENST00000703744.1:n.1805dup | ||
| ENST00000703803.1:n.1359dup | ||
| ENST00000703846.1:c.965dup | ENSP00000515498.1:p.Thr323HisfsTer? | |
| ENST00000703847.1:c.1205dup | ENSP00000515499.1:p.Thr403HisfsTer? | |
| ENST00000703848.1:n.1125dup | ||
| ENST00000703849.1:c.965dup | ENSP00000515501.1:p.Thr323HisfsTer? | |
| ENST00000703850.1:c.1169dup | ENSP00000515503.1:p.Thr391HisfsTer? | |
| ENST00000703851.1:n.1014dup | ||
| ENST00000703866.1:c.1094dup | ENSP00000515511.1:p.Thr366HisfsTer? | |
| ENST00000526683.6:c.1094dup MANE Select | ENSP00000434359.1:p.Thr366HisfsTer? | |
| ENST00000313352.11:c.914dup | ENSP00000322016.7:p.Thr306HisfsTer? | |
| ENST00000349157.10:c.1043dup | ENSP00000322036.7:p.Thr349HisfsTer? | |
| ENST00000453551.6:c.965dup | ENSP00000402953.2:p.Thr323HisfsTer? | |
| ENST00000456095.6:c.1007dup | ENSP00000395417.2:p.Thr337HisfsTer? | |
| ENST00000524570.5:n.1780dup | ||
| ENST00000526683.5:c.1094dup | ENSP00000434359.1:p.Thr366HisfsTer? | |
| ENST00000527197.5:c.956dup | ENSP00000431960.1:p.Thr320HisfsTer? | |
| ENST00000532884.1:c.703dup | ||
| NM_001136033.2:c.965dup | NP_001129505.1:p.Thr323HisfsTer? | |
| NM_001271096.1:c.1040dup | NP_001258025.1:p.Thr348HisfsTer? | |
| NM_001271097.1:c.956dup | NP_001258026.1:p.Thr320HisfsTer? | |
| NM_001271098.1:c.1091dup | NP_001258027.1:p.Thr365HisfsTer? | |
| NM_001271099.1:c.1007dup | NP_001258028.1:p.Thr337HisfsTer? | |
| NM_001271100.1:c.914dup | NP_001258029.1:p.Thr306HisfsTer? | |
| NM_014281.4:c.1043dup | NP_055096.2:p.Thr349HisfsTer? | |
| NM_078480.2:c.1094dup | NP_510965.1:p.Thr366HisfsTer? | |
| XM_011516929.1:c.1205dup | XP_011515231.1:p.Thr403HisfsTer? | |
| XM_011516930.1:c.1154dup | XP_011515232.1:p.Thr386HisfsTer? | |
| NM_001362895.1:c.1205dup | NP_001349824.1:p.Thr403HisfsTer? | |
| NM_001362896.1:c.1205dup | NP_001349825.1:p.Thr403HisfsTer? | |
| NM_001362897.1:c.1154dup | NP_001349826.1:p.Thr386HisfsTer? | |
| XM_017013234.1:c.1205dup | XP_016868723.1:p.Thr403HisfsTer? | |
| XM_017013235.1:c.1169dup | XP_016868724.1:p.Thr391HisfsTer? | |
| XM_017013236.1:c.1154dup | XP_016868725.1:p.Thr386HisfsTer? | |
| XM_017013239.1:c.965dup | XP_016868728.1:p.Thr323HisfsTer? | |
| XM_017013240.1:c.914dup | XP_016868729.1:p.Thr306HisfsTer? | |
| NM_001136033.3:c.965dup | NP_001129505.1:p.Thr323HisfsTer? | |
| NM_001271096.2:c.1040dup | NP_001258025.1:p.Thr348HisfsTer? | |
| NM_001271097.2:c.956dup | NP_001258026.1:p.Thr320HisfsTer? | |
| NM_001271098.2:c.1091dup | NP_001258027.1:p.Thr365HisfsTer? | |
| NM_001271099.2:c.1007dup | NP_001258028.1:p.Thr337HisfsTer? | |
| NM_001271100.2:c.914dup | NP_001258029.1:p.Thr306HisfsTer? | |
| NM_001362895.2:c.1205dup | NP_001349824.1:p.Thr403HisfsTer? | |
| NM_001362896.2:c.1205dup | NP_001349825.1:p.Thr403HisfsTer? | |
| NM_001362897.2:c.1154dup | NP_001349826.1:p.Thr386HisfsTer? | |
| NM_014281.5:c.1043dup | NP_055096.2:p.Thr349HisfsTer? | |
| NM_078480.3:c.1094dup MANE Select | NP_510965.1:p.Thr366HisfsTer? |