Linked Data
dbSNP Id:
rs1840664055
gnomAD v3:
10-59707313-GGAAGGGAAGGGAA-G
gnomAD v4:
10-59707313-GGAAGGGAAGGGAA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.59707315_59707327del , CM000672.2:g.59707315_59707327del | GRCh38 |
| NC_000010.10:g.61467073_61467085del , CM000672.1:g.61467073_61467085del | GRCh37 |
| NC_000010.9:g.61137079_61137091del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395348.8:c.-37+2153_-37+2165del MANE Select | ENSP00000378757.3:n.-37+2153_-37+2165del | |
| ENST00000395347.1:c.-36-22999_-36-22987del | ENSP00000378756.1:n.-36-22999_-36-22987del | |
| ENST00000395348.7:c.-37+2153_-37+2165del | ENSP00000378757.3:n.-37+2153_-37+2165del | |
| ENST00000490066.1:n.222+1280_222+1292del | ||
| NM_194298.2:c.-37+2153_-37+2165del | NP_919274.1:n.-37+2153_-37+2165del | |
| NM_001323977.1:c.-168+2686_-168+2698del | NP_001310906.1:n.-168+2686_-168+2698del | |
| NM_001323978.1:c.-250-138_-250-126del | NP_001310907.1:n.-250-138_-250-126del | |
| NM_001323979.1:c.-168+2383_-168+2395del | NP_001310908.1:n.-168+2383_-168+2395del | |
| NM_001323980.1:c.-168+2153_-168+2165del | NP_001310909.1:n.-168+2153_-168+2165del | |
| NM_001323981.1:c.-119-138_-119-126del | NP_001310910.1:n.-119-138_-119-126del | |
| XM_017015883.1:c.-37+2153_-37+2165del | XP_016871372.1:n.-37+2153_-37+2165del | |
| XM_017015884.2:c.-182+2153_-182+2165del | XP_016871373.1:n.-182+2153_-182+2165del | |
| NM_001323978.2:c.-250-138_-250-126del | NP_001310907.1:n.-250-138_-250-126del | |
| NM_001323979.2:c.-168+2383_-168+2395del | NP_001310908.1:n.-168+2383_-168+2395del | |
| NM_001323980.2:c.-168+2153_-168+2165del | NP_001310909.1:n.-168+2153_-168+2165del | |
| NM_001323981.2:c.-119-138_-119-126del | NP_001310910.1:n.-119-138_-119-126del | |
| NM_194298.3:c.-37+2153_-37+2165del MANE Select | NP_919274.1:n.-37+2153_-37+2165del |