Linked Data
gnomAD v4:
1-229433117-G-GT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.229433118dup , CM000663.2:g.229433118dup | GRCh38 |
| NC_000001.10:g.229568865dup , CM000663.1:g.229568865dup | GRCh37 |
| NC_000001.9:g.227635488dup | NCBI36 |
| NG_006672.1:g.5979dup , LRG_429:g.5979dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000366683.4:c.-3dup | ENSP00000355644.4:n.-3dup | |
| ENST00000684723.1:c.-6-238dup | ENSP00000508084.1:n.-6-238dup | |
| ENST00000366683.3:c.-3dup | ENSP00000355644.3:n.-3dup | |
| ENST00000366684.7:c.-3dup MANE Select | ENSP00000355645.3:n.-3dup | |
| NM_001100.3:c.-3dup , LRG_429t1:c.-3dup | NP_001091.1:n.-3dup | |
| NM_001100.4:c.-3dup MANE Select | NP_001091.1:n.-3dup |