Linked Data
gnomAD v4:
1-204190487-GC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.204190491del , CM000663.2:g.204190491del | GRCh38 |
| NC_000001.10:g.204159619del , CM000663.1:g.204159619del | GRCh37 |
| NC_000001.9:g.202426242del | NCBI36 |
| NG_032151.1:g.11004del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367194.5:c.413del MANE Select | ENSP00000356162.4:p.Gly138AlafsTer9 | |
| ENST00000367194.4:c.413del | ENSP00000356162.4:p.Gly138AlafsTer9 | |
| ENST00000625357.1:c.413del | ENSP00000485957.1:p.Gly138AlafsTer? | |
| NM_002256.3:c.413del | NP_002247.3:p.Gly138AlafsTer9 | |
| XM_011509525.1:c.413del | XP_011507827.1:p.Gly138AlafsTer9 | |
| NM_002256.4:c.413del MANE Select | NP_002247.3:p.Gly138AlafsTer9 |