Linked Data
gnomAD v4:
1-204190471-CGCACCTGCG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.204190472_204190480del , CM000663.2:g.204190472_204190480del | GRCh38 |
| NC_000001.10:g.204159600_204159608del , CM000663.1:g.204159600_204159608del | GRCh37 |
| NC_000001.9:g.202426223_202426231del | NCBI36 |
| NG_032151.1:g.11012_11020del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367194.5:c.*4_*12del MANE Select | ENSP00000356162.4:n.*4_*12del | |
| ENST00000367194.4:c.*4_*12del | ENSP00000356162.4:n.*4_*12del | |
| ENST00000625357.1:c.417_425del | ENSP00000485957.1:p.Ala140_Ala142del | |
| NM_002256.3:c.*4_*12del | NP_002247.3:n.*4_*12del | |
| XM_011509525.1:c.*4_*12del | XP_011507827.1:n.*4_*12del | |
| NM_002256.4:c.*4_*12del MANE Select | NP_002247.3:n.*4_*12del |