Linked Data
dbSNP Id:
rs1565367406
gnomAD v2:
11-122929727-TGTTATCA-T
gnomAD v3:
11-123059019-TGTTATCA-T
gnomAD v4:
11-123059019-TGTTATCA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.123059022_123059028del , CM000673.2:g.123059022_123059028del | GRCh38 |
| NC_000011.9:g.122929730_122929736del , CM000673.1:g.122929730_122929736del | GRCh37 |
| NC_000011.8:g.122434940_122434946del | NCBI36 |
| NG_029473.1:g.8111_8117del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000534624.6:c.1323+33_1323+39del MANE Select | ENSP00000432083.1:n.1323+33_1323+39del | |
| ENST00000227378.7:c.1323+33_1323+39del | ENSP00000227378.3:n.1323+33_1323+39del | |
| ENST00000453788.6:c.1323+33_1323+39del | ENSP00000404372.2:n.1323+33_1323+39del | |
| ENST00000524552.5:c.96+33_96+39del | ENSP00000435908.1:n.96+33_96+39del | |
| ENST00000526110.5:c.1266+33_1266+39del | ENSP00000433584.1:n.1266+33_1266+39del | |
| ENST00000526686.1:c.-217_-211del | ENSP00000435019.1:n.-217_-211del | |
| ENST00000532091.1:n.1103_1109del | ||
| ENST00000532636.5:c.1323+33_1323+39del | ENSP00000437125.1:n.1323+33_1323+39del | |
| ENST00000533238.5:n.425+33_425+39del | ||
| ENST00000533540.5:c.885+33_885+39del | ENSP00000437189.1:n.885+33_885+39del | |
| ENST00000534319.5:c.615+33_615+39del | ENSP00000433316.1:n.615+33_615+39del | |
| ENST00000534624.5:c.1323+33_1323+39del | ENSP00000432083.1:n.1323+33_1323+39del | |
| NM_006597.5:c.1323+33_1323+39del | NP_006588.1:n.1323+33_1323+39del | |
| NM_153201.3:c.1323+33_1323+39del | NP_694881.1:n.1323+33_1323+39del | |
| XM_011542798.1:c.1323+33_1323+39del | XP_011541100.1:n.1323+33_1323+39del | |
| NM_006597.6:c.1323+33_1323+39del MANE Select | NP_006588.1:n.1323+33_1323+39del | |
| NM_153201.4:c.1323+33_1323+39del | NP_694881.1:n.1323+33_1323+39del |