Linked Data
dbSNP Id:
rs751906773
gnomAD v2:
X-41203676-TTTTTGTTTTG-T
gnomAD v3:
X-41344423-TTTTTGTTTTG-T
gnomAD v4:
X-41344423-TTTTTGTTTTG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.41344436_41344445del , CM000685.2:g.41344436_41344445del | GRCh38 |
| NC_000023.10:g.41203689_41203698del , CM000685.1:g.41203689_41203698del | GRCh37 |
| NC_000023.9:g.41088633_41088642del | NCBI36 |
| NG_012830.1:g.16039_16048del | |
| NG_012830.2:g.16039_16048del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642322.2:c.1157+37_1157+46del | ENSP00000496052.2:n.1157+37_1157+46del | |
| ENST00000399959.7:c.1022+37_1022+46del | ENSP00000382840.3:n.1022+37_1022+46del | |
| ENST00000441189.4:c.926+37_926+46del | ENSP00000414281.3:n.926+37_926+46del | |
| ENST00000457138.7:c.977+37_977+46del | ENSP00000392494.2:n.977+37_977+46del | |
| ENST00000629496.3:c.1025+37_1025+46del | ENSP00000487224.1:n.1025+37_1025+46del | |
| ENST00000631641.2:n.1105_1114del | ||
| ENST00000642161.1:n.3224+37_3224+46del | ||
| ENST00000642322.1:c.467+37_467+46del | ENSP00000496052.1:n.467+37_467+46del | |
| ENST00000642424.1:c.467+37_467+46del | ENSP00000496356.1:n.467+37_467+46del | |
| ENST00000642589.1:n.4347+37_4347+46del | ||
| ENST00000642597.1:n.1199+37_1199+46del | ||
| ENST00000642687.1:n.1058+37_1058+46del | ||
| ENST00000642722.1:n.1858+37_1858+46del | ||
| ENST00000642763.1:n.1916+37_1916+46del | ||
| ENST00000642793.1:c.*474+37_*474+46del | ENSP00000493976.1:n.*474+37_*474+46del | |
| ENST00000642801.1:n.674+37_674+46del | ||
| ENST00000643820.1:n.301+37_301+46del | ||
| ENST00000643963.1:c.*307+37_*307+46del | ENSP00000495264.1:n.*307+37_*307+46del | |
| ENST00000644073.1:c.983+37_983+46del | ENSP00000493475.1:n.983+37_983+46del | |
| ENST00000644074.1:c.1022+37_1022+46del | ENSP00000496663.1:n.1022+37_1022+46del | |
| ENST00000644109.1:c.1059_1068del | ENSP00000494952.1:p.Cys354PhefsTer? | |
| ENST00000644307.1:n.1116+37_1116+46del | ||
| ENST00000644513.1:c.1025+37_1025+46del | ENSP00000493819.1:n.1025+37_1025+46del | |
| ENST00000644677.1:c.908+37_908+46del | ENSP00000496524.1:n.908+37_908+46del | |
| ENST00000644876.2:c.1025+37_1025+46del MANE Select | ENSP00000494040.1:n.1025+37_1025+46del | |
| ENST00000644958.1:n.2686+37_2686+46del | ||
| ENST00000645080.1:c.*2247+37_*2247+46del | ENSP00000494767.1:n.*2247+37_*2247+46del | |
| ENST00000645120.1:n.2520+37_2520+46del | ||
| ENST00000645338.1:n.1116+37_1116+46del | ||
| ENST00000645380.1:n.2410+37_2410+46del | ||
| ENST00000645561.1:n.2201+37_2201+46del | ||
| ENST00000645574.1:n.3889+37_3889+46del | ||
| ENST00000645589.1:c.1025+37_1025+46del | ENSP00000494588.1:n.1025+37_1025+46del | |
| ENST00000646093.1:n.209+37_209+46del | ||
| ENST00000646107.1:c.908+37_908+46del | ENSP00000494518.1:n.908+37_908+46del | |
| ENST00000646122.1:c.1025+37_1025+46del | ENSP00000496222.1:n.1025+37_1025+46del | |
| ENST00000646196.1:n.1994+37_1994+46del | ||
| ENST00000646223.1:c.*1018+37_*1018+46del | ENSP00000496043.1:n.*1018+37_*1018+46del | |
| ENST00000646319.1:c.1025+37_1025+46del | ENSP00000495377.1:n.1025+37_1025+46del | |
| ENST00000646390.1:n.3313+37_3313+46del | ||
| ENST00000646627.1:c.467+37_467+46del | ENSP00000493795.1:n.467+37_467+46del | |
| ENST00000646679.1:c.467+37_467+46del | ENSP00000494887.1:n.467+37_467+46del | |
| ENST00000646822.1:n.2087+37_2087+46del | ||
| ENST00000646940.1:n.1199+37_1199+46del | ||
| ENST00000647286.1:n.1123+37_1123+46del | ||
| ENST00000399959.6:c.1025+37_1025+46del | ENSP00000382840.2:n.1025+37_1025+46del | |
| ENST00000441189.3:c.340+1886_340+1895del | ENSP00000414281.2:n.340+1886_340+1895del | |
| ENST00000457138.6:c.977+37_977+46del | ENSP00000392494.2:n.977+37_977+46del | |
| ENST00000478993.5:c.1025+37_1025+46del | ENSP00000478443.1:n.1025+37_1025+46del | |
| ENST00000542215.5:n.1073+37_1073+46del | ||
| ENST00000625837.2:c.1025+37_1025+46del | ENSP00000486306.1:n.1025+37_1025+46del | |
| ENST00000626301.2:c.1025+37_1025+46del | ENSP00000486443.1:n.1025+37_1025+46del | |
| ENST00000629496.2:c.1025+37_1025+46del | ENSP00000487224.1:n.1025+37_1025+46del | |
| ENST00000629785.2:c.1025+37_1025+46del | ENSP00000486516.1:n.1025+37_1025+46del | |
| ENST00000630255.2:c.1025+37_1025+46del | ENSP00000486720.1:n.1025+37_1025+46del | |
| ENST00000630370.2:c.1025+37_1025+46del | ENSP00000487062.1:n.1025+37_1025+46del | |
| ENST00000630858.2:c.1025+37_1025+46del | ENSP00000486514.1:n.1025+37_1025+46del | |
| NM_001193416.2:c.1025+37_1025+46del | NP_001180345.1:n.1025+37_1025+46del | |
| NM_001193417.2:c.977+37_977+46del | NP_001180346.1:n.977+37_977+46del | |
| NM_001356.4:c.1025+37_1025+46del | NP_001347.3:n.1025+37_1025+46del | |
| NR_126093.1:n.1970+37_1970+46del | ||
| XM_011543892.1:c.1025+37_1025+46del | XP_011542194.1:n.1025+37_1025+46del | |
| NM_001363819.1:c.467+37_467+46del | NP_001350748.1:n.467+37_467+46del | |
| XM_011543892.2:c.1025+37_1025+46del | XP_011542194.1:n.1025+37_1025+46del | |
| XM_017029313.1:c.467+37_467+46del | XP_016884802.1:n.467+37_467+46del | |
| NM_001193416.3:c.1025+37_1025+46del | NP_001180345.1:n.1025+37_1025+46del | |
| NM_001193417.3:c.977+37_977+46del | NP_001180346.1:n.977+37_977+46del | |
| NM_001356.5:c.1025+37_1025+46del MANE Select | NP_001347.3:n.1025+37_1025+46del |