Linked Data
dbSNP Id:
rs1397694949
gnomAD v3:
7-73442610-ACT-A
gnomAD v4:
7-73442610-ACT-A
MyVariant Identifiers:
chr7:g.73442611_73442612del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.73442611_73442612del , CM000669.2:g.73442611_73442612del | GRCh38 |
| NC_000007.13:g.72856941_72856942del , CM000669.1:g.72856941_72856942del | GRCh37 |
| NC_000007.12:g.72494877_72494878del | NCBI36 |
| NG_027679.1:g.84674_84675del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000339594.9:c.4095-59_4095-58del MANE Select | ENSP00000342434.4:n.4095-59_4095-58del | |
| ENST00000339594.8:c.4095-59_4095-58del | ENSP00000342434.4:n.4095-59_4095-58del | |
| ENST00000404251.1:c.4095-59_4095-58del | ENSP00000385442.1:n.4095-59_4095-58del | |
| NM_032408.3:c.4095-59_4095-58del | NP_115784.1:n.4095-59_4095-58del | |
| XM_017012773.2:c.4095-59_4095-58del | XP_016868262.1:n.4095-59_4095-58del | |
| NM_032408.4:c.4095-59_4095-58del MANE Select | NP_115784.1:n.4095-59_4095-58del | |
| NM_001370402.1:c.4095-59_4095-58del | NP_001357331.1:n.4095-59_4095-58del |