Linked Data
gnomAD v4:
2-202377353-CTG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.202377355_202377356del , CM000664.2:g.202377355_202377356del | GRCh38 |
| NC_000002.11:g.203242078_203242079del , CM000664.1:g.203242078_203242079del | GRCh37 |
| NC_000002.10:g.202950323_202950324del | NCBI36 |
| NG_009363.1:g.6029_6030del , LRG_712:g.6029_6030del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374580.10:c.-120_-119del MANE Select | ENSP00000363708.4:n.-120_-119del | |
| ENST00000374580.8:c.-120_-119del | ENSP00000363708.4:n.-120_-119del | |
| NM_001204.6:c.-120_-119del , LRG_712t1:c.-120_-119del | NP_001195.2:n.-120_-119del | |
| XM_011511687.1:c.-120_-119del | XP_011509989.1:n.-120_-119del | |
| XM_011511688.1:c.-120_-119del | XP_011509990.1:n.-120_-119del | |
| NM_001204.7:c.-120_-119del MANE Select | NP_001195.2:n.-120_-119del |