Linked Data
dbSNP Id:
rs10709028
gnomAD v2:
4-25158025-TAA-T
gnomAD v3:
4-25156403-TAA-T
gnomAD v4:
4-25156403-TAA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.25156413_25156414del , CM000666.2:g.25156413_25156414del | GRCh38 |
| NC_000004.11:g.25158035_25158036del , CM000666.1:g.25158035_25158036del | GRCh37 |
| NC_000004.10:g.24767133_24767134del | NCBI36 |
| NG_028222.1:g.9178_9179del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382103.7:c.389-210_389-209del MANE Select | ENSP00000371535.2:n.389-210_389-209del | |
| ENST00000680581.1:c.389-210_389-209del | ENSP00000506483.1:n.389-210_389-209del | |
| ENST00000680824.1:n.1605-210_1605-209del | ||
| ENST00000681071.1:n.681-210_681-209del | ||
| ENST00000681166.1:n.1436-210_1436-209del | ||
| ENST00000681341.1:n.1530-210_1530-209del | ||
| ENST00000681640.1:n.483-210_483-209del | ||
| ENST00000681948.1:c.644-210_644-209del | ENSP00000505991.1:n.644-210_644-209del | |
| ENST00000358971.7:c.*187-210_*187-209del | ENSP00000351857.3:n.*187-210_*187-209del | |
| ENST00000382103.6:c.389-210_389-209del | ENSP00000371535.2:n.389-210_389-209del | |
| ENST00000514585.5:c.*90-210_*90-209del | ENSP00000421880.1:n.*90-210_*90-209del | |
| NM_016955.3:c.389-210_389-209del | NP_058651.3:n.389-210_389-209del | |
| XM_005248168.2:c.152-210_152-209del | XP_005248225.1:n.152-210_152-209del | |
| XM_006713965.2:c.209-210_209-209del | XP_006714028.1:n.209-210_209-209del | |
| XM_011513846.1:c.386-210_386-209del | XP_011512148.1:n.386-210_386-209del | |
| XM_011513847.1:c.356-210_356-209del | XP_011512149.1:n.356-210_356-209del | |
| XM_011513848.1:c.209-210_209-209del | XP_011512150.1:n.209-210_209-209del | |
| XM_011513846.2:c.386-210_386-209del | XP_011512148.1:n.386-210_386-209del | |
| XM_011513847.2:c.356-210_356-209del | XP_011512149.1:n.356-210_356-209del | |
| XM_017008277.1:c.644-210_644-209del | XP_016863766.1:n.644-210_644-209del | |
| XM_017008278.1:c.-35-210_-35-209del | XP_016863767.1:n.-35-210_-35-209del | |
| NM_016955.4:c.389-210_389-209del MANE Select | NP_058651.3:n.389-210_389-209del |