Linked Data
dbSNP Id:
rs1570105895
gnomAD v2:
1-2340047-GTGGTGACGCATC-G
gnomAD v4:
1-2408608-GTGGTGACGCATC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.2408609_2408620del , CM000663.2:g.2408609_2408620del | GRCh38 |
| NC_000001.10:g.2340048_2340059del , CM000663.1:g.2340048_2340059del | GRCh37 |
| NC_000001.9:g.2329908_2329919del | NCBI36 |
| NG_008342.1:g.8952_8963del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000288774.8:c.432_443del | ENSP00000288774.3:p.Trp144_His148delinsCys | |
| ENST00000447513.7:c.432_443del MANE Select | ENSP00000407922.2:p.Trp144_His148delinsCys | |
| ENST00000650293.1:c.386_397del | ||
| ENST00000288774.7:c.432_443del | ENSP00000288774.3:p.Trp144_His148delinsCys | |
| ENST00000447513.6:c.432_443del | ENSP00000407922.2:p.Trp144_His148delinsCys | |
| ENST00000502666.1:c.637_648del | ENSP00000461951.1:n.637_648del | |
| ENST00000507596.5:c.432_443del | ENSP00000424291.1:p.Trp144_His148delinsCys | |
| ENST00000508384.5:c.-1_11del | ||
| ENST00000510434.1:c.432_443del | ENSP00000423051.1:p.Trp144_His148delinsCys | |
| ENST00000515760.1:n.566_577del | ||
| NM_002617.3:c.432_443del | NP_002608.1:p.Trp144_His148delinsCys | |
| NM_153818.1:c.432_443del | NP_722540.1:p.Trp144_His148delinsCys | |
| XM_011541573.1:c.432_443del | XP_011539875.1:p.Trp144_His148delinsCys | |
| XM_011541574.1:c.-1_11del | ||
| XM_011541575.1:c.-1_11del | ||
| XM_011541576.1:c.432_443del | XP_011539878.1:p.Trp144_His148delinsCys | |
| XR_946666.1:n.552_563del | ||
| XM_011541576.2:c.432_443del | XP_011539878.1:p.Trp144_His148delinsCys | |
| XR_946666.2:n.501_512del | ||
| NM_001374425.1:c.432_443del | NP_001361354.1:p.Trp144_His148delinsCys | |
| NM_001374426.1:c.-1_11del | ||
| NM_001374427.1:c.-1_11del | ||
| NM_002617.4:c.432_443del MANE Select | NP_002608.1:p.Trp144_His148delinsCys | |
| NM_153818.2:c.432_443del | NP_722540.1:p.Trp144_His148delinsCys | |
| NR_164636.1:n.551_562del |