Linked Data
gnomAD v4:
1-204190414-GCCC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.204190418_204190420del , CM000663.2:g.204190418_204190420del | GRCh38 |
| NC_000001.10:g.204159546_204159548del , CM000663.1:g.204159546_204159548del | GRCh37 |
| NC_000001.9:g.202426169_202426171del | NCBI36 |
| NG_032151.1:g.11075_11077del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367194.5:c.*67_*69del MANE Select | ENSP00000356162.4:n.*67_*69del | |
| ENST00000367194.4:c.*67_*69del | ENSP00000356162.4:n.*67_*69del | |
| NM_002256.3:c.*67_*69del | NP_002247.3:n.*67_*69del | |
| XM_011509525.1:c.*67_*69del | XP_011507827.1:n.*67_*69del | |
| NM_002256.4:c.*67_*69del MANE Select | NP_002247.3:n.*67_*69del |