Linked Data
gnomAD v4:
2-43886987-CAT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43886989_43886990del , CM000664.2:g.43886989_43886990del | GRCh38 |
| NC_000002.11:g.44114128_44114129del , CM000664.1:g.44114128_44114129del | GRCh37 |
| NC_000002.10:g.43967632_43967633del | NCBI36 |
| NG_008247.1:g.114017_114018del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682612.1:c.2563_2564del | ||
| ENST00000684454.1:n.9660_9661del | ||
| ENST00000260665.12:c.*1611_*1612del MANE Select | ENSP00000260665.7:n.*1611_*1612del | |
| ENST00000260665.11:c.*1611_*1612del | ENSP00000260665.7:n.*1611_*1612del | |
| NM_133259.3:c.*1611_*1612del | NP_573566.2:n.*1611_*1612del | |
| XR_002958896.1:n.5978_5979del | ||
| NM_133259.4:c.*1611_*1612del MANE Select | NP_573566.2:n.*1611_*1612del |