Linked Data
dbSNP Id:
rs933325394
gnomAD v2:
11-46849174-TAAAAGAAA-T
gnomAD v3:
11-46827623-TAAAAGAAA-T
gnomAD v4:
11-46827623-TAAAAGAAA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.46827634_46827641del , CM000673.2:g.46827634_46827641del | GRCh38 |
| NC_000011.9:g.46849185_46849192del , CM000673.1:g.46849185_46849192del | GRCh37 |
| NC_000011.8:g.46805761_46805768del | NCBI36 |
| NG_029924.1:g.23678_23685del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000529230.6:c.-37-6363_-37-6356del MANE Select | ENSP00000432768.1:n.-37-6363_-37-6356del | |
| ENST00000312055.9:c.-37-6363_-37-6356del | ENSP00000310227.5:n.-37-6363_-37-6356del | |
| ENST00000525248.1:n.78-6383_78-6376del | ||
| ENST00000529230.5:c.-37-6363_-37-6356del | ENSP00000432768.1:n.-37-6363_-37-6356del | |
| NM_001008938.3:c.-37-6363_-37-6356del | NP_001008938.1:n.-37-6363_-37-6356del | |
| NM_014756.3:c.-37-6363_-37-6356del | NP_055571.2:n.-37-6363_-37-6356del | |
| NM_001008938.4:c.-37-6363_-37-6356del MANE Select | NP_001008938.1:n.-37-6363_-37-6356del | |
| NM_014756.4:c.-37-6363_-37-6356del | NP_055571.2:n.-37-6363_-37-6356del |