Linked Data
ClinVar Variation Id:
156059
dbSNP Id:
rs267608459
ExAC:
X:153297648 TCTTA / T
gnomAD v2:
X-153297648-TCTTA-T
gnomAD v4:
X-154032197-TCTTA-T
PubMed:
PMID:11106359
ERepo:
CA199495/MONDO:0010726/016
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154032205_154032208del , CM000685.2:g.154032205_154032208del | GRCh38 |
| NC_000023.10:g.153297656_153297659del , CM000685.1:g.153297656_153297659del | GRCh37 |
| NC_000023.9:g.152950850_152950853del | NCBI36 |
| NG_007107.2:g.109927_109930del | |
| NG_007107.3:g.109903_109906del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303391.11:c.377+6_377+9del | ||
| ENST00000453960.7:c.413+6_413+9del | ||
| ENST00000637917.1:c.10+6_10+9del | ||
| ENST00000303391.10:c.377+6_377+9del | ||
| ENST00000369957.5:c.*431+6_*431+9del | ||
| ENST00000407218.5:c.413+6_413+9del | ||
| ENST00000453960.6:c.413+6_413+9del | ||
| ENST00000486506.5:n.2725+6_2725+9del | ||
| ENST00000611468.1:c.365+6_365+9del | ||
| ENST00000619732.4:c.377+6_377+9del | ||
| ENST00000622433.4:c.365+6_365+9del | ||
| ENST00000628176.2:c.377+6_377+9del | ||
| NM_001110792.1:c.413+6_413+9del | ||
| NM_001316337.1:c.98+6_98+9del | ||
| NM_004992.3:c.377+6_377+9del | ||
| XM_005274681.3:c.377+6_377+9del | ||
| XM_005274682.3:c.98+6_98+9del | ||
| XM_005274683.3:c.98+6_98+9del | ||
| XM_006724819.2:c.-184+6_-184+9del | ||
| XM_011531166.1:c.98+6_98+9del | ||
| XM_006724819.3:c.-184+6_-184+9del | ||
| XM_011531166.2:c.98+6_98+9del | ||
| XM_024452383.1:c.98+6_98+9del | ||
| XM_024452384.1:c.98+6_98+9del | ||
| NM_001110792.2:c.413+6_413+9del | ||
| NM_001316337.2:c.98+6_98+9del | ||
| NM_001369391.2:c.98+6_98+9del | ||
| NM_001369392.2:c.98+6_98+9del | ||
| NM_001369393.2:c.98+6_98+9del | ||
| NM_001369394.1:c.98+6_98+9del | ||
| NM_001369394.2:c.98+6_98+9del | ||
| NM_001386137.1:c.-184+6_-184+9del | ||
| NM_001386138.1:c.-184+6_-184+9del | ||
| NM_001386139.1:c.-184+6_-184+9del | ||
| NM_004992.4:c.377+6_377+9del |