Linked Data
ClinVar Variation Id:
127154
dbSNP Id:
rs587777348
gnomAD v3:
4-39205183-G-GT
gnomAD v4:
4-39205183-G-GT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.39205191dup , CM000666.2:g.39205191dup | GRCh38 |
| NC_000004.11:g.39206811dup , CM000666.1:g.39206811dup | GRCh37 |
| NC_000004.10:g.38883206dup | NCBI36 |
| NG_031813.1:g.27788dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399820.8:c.641dup MANE Select | ENSP00000382717.3:p.Leu214PhefsTer5 | |
| ENST00000399820.7:c.641dup | ENSP00000382717.3:p.Leu214PhefsTer5 | |
| ENST00000503697.5:c.*109dup | ENSP00000423706.1:n.*109dup | |
| ENST00000505055.5:c.*222dup | ENSP00000425949.1:n.*222dup | |
| ENST00000506503.1:c.641dup | ENSP00000423491.1:p.Leu214PhefsTer5 | |
| ENST00000506869.5:c.*222dup | ENSP00000424319.1:n.*222dup | |
| ENST00000511729.5:n.40+22628dup | ||
| ENST00000512448.1:n.235dup | ||
| NM_025132.3:c.641dup | NP_079408.3:p.Leu214PhefsTer5 | |
| XM_011513724.1:c.641dup | XP_011512026.1:p.Leu214PhefsTer5 | |
| XM_011513725.1:c.575dup | XP_011512027.1:p.Leu192PhefsTer5 | |
| XM_011513726.1:c.161dup | XP_011512028.1:p.Leu54PhefsTer5 | |
| XM_011513727.1:c.161dup | XP_011512029.1:p.Leu54PhefsTer5 | |
| XM_011513728.1:c.161dup | XP_011512030.1:p.Leu54PhefsTer5 | |
| XM_011513729.1:c.641dup | XP_011512031.1:p.Leu214PhefsTer5 | |
| XR_925155.1:n.705dup | ||
| NM_001317924.1:c.161dup | NP_001304853.1:p.Leu54PhefsTer5 | |
| XM_011513725.2:c.575dup | XP_011512027.1:p.Leu192PhefsTer5 | |
| XM_011513726.3:c.161dup | XP_011512028.1:p.Leu54PhefsTer5 | |
| XM_017008501.1:c.161dup | XP_016863990.1:p.Leu54PhefsTer5 | |
| XR_001741306.1:n.705dup | ||
| XR_001741307.1:n.705dup | ||
| XR_001741308.1:n.705dup | ||
| XR_001741309.1:n.705dup | ||
| XR_001741310.1:n.705dup | ||
| XR_001741311.2:n.554dup | ||
| XR_001741312.1:n.705dup | ||
| NM_025132.4:c.641dup MANE Select | NP_079408.3:p.Leu214PhefsTer5 | |
| NM_001317924.2:c.161dup | NP_001304853.1:p.Leu54PhefsTer5 |