Linked Data
gnomAD v4:
6-32220835-GAC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32220839_32220840del , CM000668.2:g.32220839_32220840del | GRCh38 |
| NC_000006.11:g.32188616_32188617del , CM000668.1:g.32188616_32188617del | GRCh37 |
| NC_000006.10:g.32296594_32296595del | NCBI36 |
| NG_028190.1:g.8231_8232del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375023.3:c.841_842del MANE Select | ENSP00000364163.3:p.Val281GlnfsTer? | |
| ENST00000473562.1:n.970_971del | ||
| NM_004557.3:c.841_842del | NP_004548.3:p.Val281GlnfsTer? | |
| NR_134949.1:n.980_981del | ||
| NR_134950.1:n.980_981del | ||
| NM_004557.4:c.841_842del MANE Select | NP_004548.3:p.Val281GlnfsTer? | |
| NR_134949.2:n.980_981del | ||
| NR_134950.2:n.980_981del |