Linked Data
dbSNP Id:
rs778930082
ExAC:
X:41205714 GTTTTC / G
gnomAD v2:
X-41205714-GTTTTC-G
gnomAD v3:
X-41346461-GTTTTC-G
gnomAD v4:
X-41346461-GTTTTC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.41346466_41346470del , CM000685.2:g.41346466_41346470del | GRCh38 |
| NC_000023.10:g.41205719_41205723del , CM000685.1:g.41205719_41205723del | GRCh37 |
| NC_000023.9:g.41090663_41090667del | NCBI36 |
| NG_012830.1:g.18069_18073del | |
| NG_012830.2:g.18069_18073del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642322.2:c.1630-39_1630-35del | ENSP00000496052.2:n.1630-39_1630-35del | |
| ENST00000399959.7:c.1495-39_1495-35del | ENSP00000382840.3:n.1495-39_1495-35del | |
| ENST00000441189.4:c.1399-39_1399-35del | ENSP00000414281.3:n.1399-39_1399-35del | |
| ENST00000457138.7:c.1450-39_1450-35del | ENSP00000392494.2:n.1450-39_1450-35del | |
| ENST00000611968.2:c.92-39_92-35del | ||
| ENST00000616050.3:c.246-39_246-35del | ||
| ENST00000629496.3:c.1498-39_1498-35del | ENSP00000487224.1:n.1498-39_1498-35del | |
| ENST00000642161.1:n.3697-39_3697-35del | ||
| ENST00000642322.1:c.940-39_940-35del | ENSP00000496052.1:n.940-39_940-35del | |
| ENST00000642424.1:c.940-39_940-35del | ENSP00000496356.1:n.940-39_940-35del | |
| ENST00000642589.1:n.4820-39_4820-35del | ||
| ENST00000642597.1:n.1672-39_1672-35del | ||
| ENST00000642687.1:n.1531-39_1531-35del | ||
| ENST00000642722.1:n.2331-39_2331-35del | ||
| ENST00000642763.1:n.2389-39_2389-35del | ||
| ENST00000642793.1:c.*947-39_*947-35del | ENSP00000493976.1:n.*947-39_*947-35del | |
| ENST00000642801.1:n.1147-39_1147-35del | ||
| ENST00000643820.1:n.829_833del | ||
| ENST00000643963.1:c.*780-39_*780-35del | ENSP00000495264.1:n.*780-39_*780-35del | |
| ENST00000644073.1:c.1456-39_1456-35del | ENSP00000493475.1:n.1456-39_1456-35del | |
| ENST00000644074.1:c.1495-39_1495-35del | ENSP00000496663.1:n.1495-39_1495-35del | |
| ENST00000644109.1:c.1660-39_1660-35del | ENSP00000494952.1:n.1660-39_1660-35del | |
| ENST00000644307.1:n.1668-39_1668-35del | ||
| ENST00000644513.1:c.1498-39_1498-35del | ENSP00000493819.1:n.1498-39_1498-35del | |
| ENST00000644677.1:c.1381-39_1381-35del | ENSP00000496524.1:n.1381-39_1381-35del | |
| ENST00000644876.2:c.1498-39_1498-35del MANE Select | ENSP00000494040.1:n.1498-39_1498-35del | |
| ENST00000644958.1:n.3159-39_3159-35del | ||
| ENST00000645080.1:c.*2720-39_*2720-35del | ENSP00000494767.1:n.*2720-39_*2720-35del | |
| ENST00000645120.1:n.2993-39_2993-35del | ||
| ENST00000645338.1:n.1668-39_1668-35del | ||
| ENST00000645380.1:n.2962-39_2962-35del | ||
| ENST00000645561.1:n.2674-39_2674-35del | ||
| ENST00000645574.1:n.4362-39_4362-35del | ||
| ENST00000645589.1:c.1498-28_1498-24del | ENSP00000494588.1:n.1498-28_1498-24del | |
| ENST00000646107.1:c.1381-39_1381-35del | ENSP00000494518.1:n.1381-39_1381-35del | |
| ENST00000646122.1:c.1498-39_1498-35del | ENSP00000496222.1:n.1498-39_1498-35del | |
| ENST00000646196.1:n.2467-39_2467-35del | ||
| ENST00000646223.1:c.*1491-39_*1491-35del | ENSP00000496043.1:n.*1491-39_*1491-35del | |
| ENST00000646319.1:c.1498-39_1498-35del | ENSP00000495377.1:n.1498-39_1498-35del | |
| ENST00000646390.1:n.3786-39_3786-35del | ||
| ENST00000646627.1:c.940-39_940-35del | ENSP00000493795.1:n.940-39_940-35del | |
| ENST00000646679.1:c.940-39_940-35del | ENSP00000494887.1:n.940-39_940-35del | |
| ENST00000646822.1:n.2560-39_2560-35del | ||
| ENST00000646940.1:n.1672-39_1672-35del | ||
| ENST00000647286.1:n.1596-39_1596-35del | ||
| ENST00000647477.1:n.237-39_237-35del | ||
| ENST00000399959.6:c.1498-39_1498-35del | ENSP00000382840.2:n.1498-39_1498-35del | |
| ENST00000441189.3:c.341-1174_341-1170del | ENSP00000414281.2:n.341-1174_341-1170del | |
| ENST00000457138.6:c.1450-39_1450-35del | ENSP00000392494.2:n.1450-39_1450-35del | |
| ENST00000478993.5:c.1498-39_1498-35del | ENSP00000478443.1:n.1498-39_1498-35del | |
| ENST00000542215.5:n.1546-39_1546-35del | ||
| ENST00000616050.2:c.51-39_51-35del | ||
| ENST00000625837.2:c.1498-39_1498-35del | ENSP00000486306.1:n.1498-39_1498-35del | |
| ENST00000626301.2:c.1498-39_1498-35del | ENSP00000486443.1:n.1498-39_1498-35del | |
| ENST00000629496.2:c.1498-39_1498-35del | ENSP00000487224.1:n.1498-39_1498-35del | |
| ENST00000629785.2:c.1498-39_1498-35del | ENSP00000486516.1:n.1498-39_1498-35del | |
| ENST00000630255.2:c.1498-39_1498-35del | ENSP00000486720.1:n.1498-39_1498-35del | |
| ENST00000630370.2:c.1498-39_1498-35del | ENSP00000487062.1:n.1498-39_1498-35del | |
| ENST00000630858.2:c.1498-39_1498-35del | ENSP00000486514.1:n.1498-39_1498-35del | |
| NM_001193416.2:c.1498-39_1498-35del | NP_001180345.1:n.1498-39_1498-35del | |
| NM_001193417.2:c.1450-39_1450-35del | NP_001180346.1:n.1450-39_1450-35del | |
| NM_001356.4:c.1498-39_1498-35del | NP_001347.3:n.1498-39_1498-35del | |
| NR_126093.1:n.2443-39_2443-35del | ||
| XM_011543892.1:c.1498-39_1498-35del | XP_011542194.1:n.1498-39_1498-35del | |
| NM_001363819.1:c.940-39_940-35del | NP_001350748.1:n.940-39_940-35del | |
| XM_011543892.2:c.1498-39_1498-35del | XP_011542194.1:n.1498-39_1498-35del | |
| XM_017029313.1:c.940-39_940-35del | XP_016884802.1:n.940-39_940-35del | |
| NM_001193416.3:c.1498-39_1498-35del | NP_001180345.1:n.1498-39_1498-35del | |
| NM_001193417.3:c.1450-39_1450-35del | NP_001180346.1:n.1450-39_1450-35del | |
| NM_001356.5:c.1498-39_1498-35del MANE Select | NP_001347.3:n.1498-39_1498-35del |