Linked Data
gnomAD v4:
1-204190411-CCCGCCCCCCG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.204190414_204190423del , CM000663.2:g.204190414_204190423del | GRCh38 |
| NC_000001.10:g.204159542_204159551del , CM000663.1:g.204159542_204159551del | GRCh37 |
| NC_000001.9:g.202426165_202426174del | NCBI36 |
| NG_032151.1:g.11071_11080del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367194.5:c.*63_*72del MANE Select | ENSP00000356162.4:n.*63_*72del | |
| ENST00000367194.4:c.*63_*72del | ENSP00000356162.4:n.*63_*72del | |
| NM_002256.3:c.*63_*72del | NP_002247.3:n.*63_*72del | |
| XM_011509525.1:c.*63_*72del | XP_011507827.1:n.*63_*72del | |
| NM_002256.4:c.*63_*72del MANE Select | NP_002247.3:n.*63_*72del |