Linked Data
ClinVar Variation Id:
1652705
ClinVar RCV Id:
RCV002154562
dbSNP Id:
rs774166436
ExAC:
X:41204636 TAAA / T
gnomAD v2:
X-41204636-TAAA-T
gnomAD v3:
X-41345383-TAAA-T
gnomAD v4:
X-41345383-TAAA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.41345386_41345388del , CM000685.2:g.41345386_41345388del | GRCh38 |
| NC_000023.10:g.41204639_41204641del , CM000685.1:g.41204639_41204641del | GRCh37 |
| NC_000023.9:g.41089583_41089585del | NCBI36 |
| NG_012830.1:g.16989_16991del | |
| NG_012830.2:g.16989_16991del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642322.2:c.1303-18_1303-16del | ENSP00000496052.2:n.1303-18_1303-16del | |
| ENST00000399959.7:c.1168-18_1168-16del | ENSP00000382840.3:n.1168-18_1168-16del | |
| ENST00000441189.4:c.1072-18_1072-16del | ENSP00000414281.3:n.1072-18_1072-16del | |
| ENST00000457138.7:c.1123-18_1123-16del | ENSP00000392494.2:n.1123-18_1123-16del | |
| ENST00000629496.3:c.1171-18_1171-16del | ENSP00000487224.1:n.1171-18_1171-16del | |
| ENST00000642161.1:n.3370-18_3370-16del | ||
| ENST00000642322.1:c.613-18_613-16del | ENSP00000496052.1:n.613-18_613-16del | |
| ENST00000642424.1:c.613-18_613-16del | ENSP00000496356.1:n.613-18_613-16del | |
| ENST00000642589.1:n.4493-18_4493-16del | ||
| ENST00000642597.1:n.1345-18_1345-16del | ||
| ENST00000642687.1:n.1204-18_1204-16del | ||
| ENST00000642722.1:n.2004-18_2004-16del | ||
| ENST00000642763.1:n.2062-18_2062-16del | ||
| ENST00000642793.1:c.*620-18_*620-16del | ENSP00000493976.1:n.*620-18_*620-16del | |
| ENST00000642801.1:n.820-18_820-16del | ||
| ENST00000643820.1:n.447-18_447-16del | ||
| ENST00000643963.1:c.*453-18_*453-16del | ENSP00000495264.1:n.*453-18_*453-16del | |
| ENST00000644073.1:c.1129-18_1129-16del | ENSP00000493475.1:n.1129-18_1129-16del | |
| ENST00000644074.1:c.1168-18_1168-16del | ENSP00000496663.1:n.1168-18_1168-16del | |
| ENST00000644109.1:c.1333-18_1333-16del | ENSP00000494952.1:n.1333-18_1333-16del | |
| ENST00000644307.1:n.1323_1325del | ||
| ENST00000644513.1:c.1171-18_1171-16del | ENSP00000493819.1:n.1171-18_1171-16del | |
| ENST00000644677.1:c.1054-18_1054-16del | ENSP00000496524.1:n.1054-18_1054-16del | |
| ENST00000644876.2:c.1171-18_1171-16del MANE Select | ENSP00000494040.1:n.1171-18_1171-16del | |
| ENST00000644958.1:n.2832-18_2832-16del | ||
| ENST00000645080.1:c.*2393-18_*2393-16del | ENSP00000494767.1:n.*2393-18_*2393-16del | |
| ENST00000645120.1:n.2666-18_2666-16del | ||
| ENST00000645338.1:n.1323_1325del | ||
| ENST00000645380.1:n.2617_2619del | ||
| ENST00000645561.1:n.2347-18_2347-16del | ||
| ENST00000645574.1:n.4035-18_4035-16del | ||
| ENST00000645589.1:c.1171-18_1171-16del | ENSP00000494588.1:n.1171-18_1171-16del | |
| ENST00000646093.1:n.355-18_355-16del | ||
| ENST00000646107.1:c.1054-18_1054-16del | ENSP00000494518.1:n.1054-18_1054-16del | |
| ENST00000646122.1:c.1171-18_1171-16del | ENSP00000496222.1:n.1171-18_1171-16del | |
| ENST00000646196.1:n.2140-18_2140-16del | ||
| ENST00000646223.1:c.*1164-18_*1164-16del | ENSP00000496043.1:n.*1164-18_*1164-16del | |
| ENST00000646319.1:c.1171-18_1171-16del | ENSP00000495377.1:n.1171-18_1171-16del | |
| ENST00000646390.1:n.3459-18_3459-16del | ||
| ENST00000646627.1:c.613-18_613-16del | ENSP00000493795.1:n.613-18_613-16del | |
| ENST00000646679.1:c.613-18_613-16del | ENSP00000494887.1:n.613-18_613-16del | |
| ENST00000646822.1:n.2233-18_2233-16del | ||
| ENST00000646940.1:n.1345-18_1345-16del | ||
| ENST00000647286.1:n.1269-18_1269-16del | ||
| ENST00000399959.6:c.1171-18_1171-16del | ENSP00000382840.2:n.1171-18_1171-16del | |
| ENST00000441189.3:c.341-2254_341-2252del | ENSP00000414281.2:n.341-2254_341-2252del | |
| ENST00000457138.6:c.1123-18_1123-16del | ENSP00000392494.2:n.1123-18_1123-16del | |
| ENST00000478993.5:c.1171-18_1171-16del | ENSP00000478443.1:n.1171-18_1171-16del | |
| ENST00000542215.5:n.1219-18_1219-16del | ||
| ENST00000625837.2:c.1171-18_1171-16del | ENSP00000486306.1:n.1171-18_1171-16del | |
| ENST00000626301.2:c.1171-18_1171-16del | ENSP00000486443.1:n.1171-18_1171-16del | |
| ENST00000629496.2:c.1171-18_1171-16del | ENSP00000487224.1:n.1171-18_1171-16del | |
| ENST00000629785.2:c.1171-18_1171-16del | ENSP00000486516.1:n.1171-18_1171-16del | |
| ENST00000630255.2:c.1171-18_1171-16del | ENSP00000486720.1:n.1171-18_1171-16del | |
| ENST00000630370.2:c.1171-18_1171-16del | ENSP00000487062.1:n.1171-18_1171-16del | |
| ENST00000630858.2:c.1171-18_1171-16del | ENSP00000486514.1:n.1171-18_1171-16del | |
| NM_001193416.2:c.1171-18_1171-16del | NP_001180345.1:n.1171-18_1171-16del | |
| NM_001193417.2:c.1123-18_1123-16del | NP_001180346.1:n.1123-18_1123-16del | |
| NM_001356.4:c.1171-18_1171-16del | NP_001347.3:n.1171-18_1171-16del | |
| NR_126093.1:n.2116-18_2116-16del | ||
| XM_011543892.1:c.1171-18_1171-16del | XP_011542194.1:n.1171-18_1171-16del | |
| NM_001363819.1:c.613-18_613-16del | NP_001350748.1:n.613-18_613-16del | |
| XM_011543892.2:c.1171-18_1171-16del | XP_011542194.1:n.1171-18_1171-16del | |
| XM_017029313.1:c.613-18_613-16del | XP_016884802.1:n.613-18_613-16del | |
| NM_001193416.3:c.1171-18_1171-16del | NP_001180345.1:n.1171-18_1171-16del | |
| NM_001193417.3:c.1123-18_1123-16del | NP_001180346.1:n.1123-18_1123-16del | |
| NM_001356.5:c.1171-18_1171-16del MANE Select | NP_001347.3:n.1171-18_1171-16del |