Linked Data
ClinVar Variation Id:
1441935
ClinVar RCV Id:
RCV001969744
dbSNP Id:
rs1325137344
gnomAD v2:
X-1409230-GAGA-G
gnomAD v3:
X-1290337-GAGA-G
gnomAD v4:
X-1290337-GAGA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.1290340_1290342del , CM000685.2:g.1290340_1290342del | GRCh38 |
| NC_000023.10:g.1409233_1409235del , CM000685.1:g.1409233_1409235del | GRCh37 |
| NC_000023.9:g.1369233_1369235del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000498153.7:c.477_479del | ENSP00000512483.1:p.Arg160del | |
| ENST00000696230.1:c.*560_*562del | ENSP00000512496.1:n.*560_*562del | |
| ENST00000381529.9:c.477_479del MANE Select | ENSP00000370940.3:p.Arg160del | |
| ENST00000432318.8:c.477_479del | ENSP00000416437.2:p.Arg160del | |
| ENST00000355432.8:c.477_479del | ENSP00000347606.3:p.Arg160del | |
| ENST00000355805.7:c.477_479del | ENSP00000348058.2:p.Arg160del | |
| ENST00000381500.6:c.477_479del | ENSP00000370911.1:p.Arg160del | |
| ENST00000381509.8:c.477_479del | ENSP00000370920.3:p.Arg160del | |
| ENST00000381524.8:c.477_479del | ENSP00000370935.3:p.Arg160del | |
| ENST00000381529.8:c.477_479del | ENSP00000370940.3:p.Arg160del | |
| ENST00000412290.6:c.477_479del | ENSP00000410667.1:p.Arg160del | |
| ENST00000417535.7:c.477_479del | ENSP00000394227.2:p.Arg160del | |
| ENST00000419094.6:c.477_479del | ENSP00000397452.1:p.Arg160del | |
| ENST00000432318.7:c.477_479del | ENSP00000416437.2:p.Arg160del | |
| ENST00000486791.6:c.477_479del | ENSP00000436825.1:p.Arg160del | |
| ENST00000493312.6:n.514_516del | ||
| ENST00000494969.7:c.244+3142_244+3144del | ENSP00000476684.1:n.244+3142_244+3144del | |
| ENST00000501036.7:c.78_80del | ENSP00000440491.1:p.Arg27del | |
| XM_011546165.1:c.477_479del | XP_011544467.1:p.Arg160del | |
| XM_011546166.1:c.477_479del | XP_011544468.1:p.Arg160del | |
| XM_011546167.1:c.477_479del | XP_011544469.1:p.Arg160del | |
| XM_011546168.1:c.477_479del | XP_011544470.1:p.Arg160del | |
| XM_011546169.1:c.477_479del | XP_011544471.1:p.Arg160del | |
| XM_011546170.1:c.477_479del | XP_011544472.1:p.Arg160del | |
| XM_011546171.1:c.477_479del | XP_011544473.1:p.Arg160del | |
| XM_011546172.1:c.477_479del | XP_011544474.1:p.Arg160del | |
| XM_011546173.1:c.477_479del | XP_011544475.1:p.Arg160del | |
| XM_011546174.1:c.477_479del | XP_011544476.1:p.Arg160del | |
| XM_011546175.1:c.477_479del | XP_011544477.1:p.Arg160del | |
| XM_011546176.1:c.345_347del | XP_011544478.1:p.Arg116del | |
| XM_011546165.3:c.477_479del | XP_011544467.1:p.Arg160del | |
| XM_011546167.2:c.477_479del | XP_011544469.1:p.Arg160del | |
| XM_011546168.2:c.477_479del | XP_011544470.1:p.Arg160del | |
| XM_011546170.3:c.477_479del | XP_011544472.1:p.Arg160del | |
| XM_011546174.3:c.477_479del | XP_011544476.1:p.Arg160del | |
| XM_011546175.2:c.477_479del | XP_011544477.1:p.Arg160del | |
| XM_017029287.1:c.477_479del | XP_016884776.1:p.Arg160del | |
| XM_017029288.1:c.477_479del | XP_016884777.1:p.Arg160del |