Linked Data
gnomAD v4:
2-189008547-TC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189008549del , CM000664.2:g.189008549del | GRCh38 |
| NC_000002.11:g.189873275del , CM000664.1:g.189873275del | GRCh37 |
| NC_000002.10:g.189581520del | NCBI36 |
| NG_007404.1:g.39177del , LRG_3:g.39177del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450867.2:c.3427-375del | ENSP00000415346.2:n.3427-375del | |
| ENST00000304636.9:c.3526-375del MANE Select | ENSP00000304408.4:n.3526-375del | |
| ENST00000304636.7:c.3526-375del | ENSP00000304408.3:n.3526-375del | |
| ENST00000317840.9:c.2617-375del | ENSP00000315243.6:n.2617-375del | |
| ENST00000487010.1:n.248del | ||
| NM_000090.3:c.3526-375del , LRG_3t1:c.3526-375del | NP_000081.1:n.3526-375del | |
| NM_000090.4:c.3526-375del MANE Select | NP_000081.2:n.3526-375del |