Linked Data
gnomAD v4:
2-188988045-CATTT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.188988050_188988053del , CM000664.2:g.188988050_188988053del | GRCh38 |
| NC_000002.11:g.189852776_189852779del , CM000664.1:g.189852776_189852779del | GRCh37 |
| NC_000002.10:g.189561021_189561024del | NCBI36 |
| NG_007404.1:g.18678_18681del , LRG_3:g.18678_18681del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450867.2:c.529-31_529-28del | ENSP00000415346.2:n.529-31_529-28del | |
| ENST00000304636.9:c.529-31_529-28del MANE Select | ENSP00000304408.4:n.529-31_529-28del | |
| ENST00000304636.7:c.529-31_529-28del | ENSP00000304408.3:n.529-31_529-28del | |
| ENST00000317840.9:c.529-31_529-28del | ENSP00000315243.6:n.529-31_529-28del | |
| NM_000090.3:c.529-31_529-28del , LRG_3t1:c.529-31_529-28del | NP_000081.1:n.529-31_529-28del | |
| NM_000090.4:c.529-31_529-28del MANE Select | NP_000081.2:n.529-31_529-28del |