Linked Data
dbSNP Id:
rs1807968631
gnomAD v4:
7-95324436-GT-G
MyVariant Identifiers:
chr7:g.94953749del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.95324437del , CM000669.2:g.95324437del | GRCh38 |
| NC_000007.13:g.94953749del , CM000669.1:g.94953749del | GRCh37 |
| NC_000007.12:g.94791685del | NCBI36 |
| NG_008779.1:g.5136del | |
| NG_008779.2:g.5270del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222381.8:c.39del MANE Select | ENSP00000222381.3:p.Leu14TrpfsTer24 | |
| ENST00000222381.7:c.39del | ENSP00000222381.3:p.Leu14TrpfsTer24 | |
| ENST00000433729.1:c.39del | ENSP00000407359.1:p.Leu14TrpfsTer24 | |
| NM_000446.5:c.39del | NP_000437.3:p.Leu14TrpfsTer24 | |
| NM_000446.6:c.39del | NP_000437.3:p.Leu14TrpfsTer24 | |
| NM_000446.7:c.39del MANE Select | NP_000437.3:p.Leu14TrpfsTer24 |