Linked Data
dbSNP Id:
rs1160399534
gnomAD v2:
10-61467033-G-GAGGGAAGGGAAGGGA
gnomAD v3:
10-59707275-G-GAGGGAAGGGAAGGGA
gnomAD v4:
10-59707275-G-GAGGGAAGGGAAGGGA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.59707321_59707335dup , CM000672.2:g.59707321_59707335dup | GRCh38 |
| NC_000010.10:g.61467079_61467093dup , CM000672.1:g.61467079_61467093dup | GRCh37 |
| NC_000010.9:g.61137085_61137099dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395348.8:c.-37+2189_-37+2203dup MANE Select | ENSP00000378757.3:n.-37+2189_-37+2203dup | |
| ENST00000395347.1:c.-36-22963_-36-22949dup | ENSP00000378756.1:n.-36-22963_-36-22949dup | |
| ENST00000395348.7:c.-37+2189_-37+2203dup | ENSP00000378757.3:n.-37+2189_-37+2203dup | |
| ENST00000490066.1:n.222+1316_222+1330dup | ||
| NM_194298.2:c.-37+2189_-37+2203dup | NP_919274.1:n.-37+2189_-37+2203dup | |
| NM_001323977.1:c.-168+2722_-168+2736dup | NP_001310906.1:n.-168+2722_-168+2736dup | |
| NM_001323978.1:c.-250-102_-250-88dup | NP_001310907.1:n.-250-102_-250-88dup | |
| NM_001323979.1:c.-168+2419_-168+2433dup | NP_001310908.1:n.-168+2419_-168+2433dup | |
| NM_001323980.1:c.-168+2189_-168+2203dup | NP_001310909.1:n.-168+2189_-168+2203dup | |
| NM_001323981.1:c.-119-102_-119-88dup | NP_001310910.1:n.-119-102_-119-88dup | |
| XM_017015883.1:c.-37+2189_-37+2203dup | XP_016871372.1:n.-37+2189_-37+2203dup | |
| XM_017015884.2:c.-182+2189_-182+2203dup | XP_016871373.1:n.-182+2189_-182+2203dup | |
| NM_001323978.2:c.-250-102_-250-88dup | NP_001310907.1:n.-250-102_-250-88dup | |
| NM_001323979.2:c.-168+2419_-168+2433dup | NP_001310908.1:n.-168+2419_-168+2433dup | |
| NM_001323980.2:c.-168+2189_-168+2203dup | NP_001310909.1:n.-168+2189_-168+2203dup | |
| NM_001323981.2:c.-119-102_-119-88dup | NP_001310910.1:n.-119-102_-119-88dup | |
| NM_194298.3:c.-37+2189_-37+2203dup MANE Select | NP_919274.1:n.-37+2189_-37+2203dup |