Linked Data
dbSNP Id:
rs1475748232
gnomAD v2:
11-202961-ATTG-A
gnomAD v3:
11-202961-ATTG-A
gnomAD v4:
11-202961-ATTG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.202964_202966del , CM000673.2:g.202964_202966del | GRCh38 |
| NC_000011.9:g.202964_202966del , CM000673.1:g.202964_202966del | GRCh37 |
| NC_000011.8:g.192964_192966del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382762.8:c.*2338_*2340del MANE Select | ENSP00000372210.3:n.*2338_*2340del | |
| ENST00000325147.13:c.*2506_*2508del | ENSP00000339093.7:n.*2506_*2508del | |
| ENST00000382762.7:c.*2338_*2340del | ENSP00000372210.3:n.*2338_*2340del | |
| ENST00000410108.5:c.168+2647_168+2649del | ENSP00000386558.1:n.168+2647_168+2649del | |
| NM_001098787.1:c.*2338_*2340del | NP_001092257.1:n.*2338_*2340del | |
| NM_016526.4:c.*2506_*2508del | NP_057610.2:n.*2506_*2508del | |
| NM_001098787.2:c.*2338_*2340del MANE Select | NP_001092257.1:n.*2338_*2340del | |
| NM_016526.5:c.*2506_*2508del | NP_057610.2:n.*2506_*2508del |