ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.2406741_2406742del , CM000663.2:g.2406741_2406742del | GRCh38 |
| NC_000001.10:g.2338180_2338181del , CM000663.1:g.2338180_2338181del | GRCh37 |
| NC_000001.9:g.2328040_2328041del | NCBI36 |
| NG_008342.1:g.10831_10832del | |
| NG_016128.1:g.19967_19968del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000288774.8:c.815_816del | ENSP00000288774.3:p.His272ProfsTer? | |
| ENST00000447513.7:c.755_756del MANE Select | ENSP00000407922.2:p.His252ProfsTer? | |
| ENST00000650293.1:c.709_710del | ||
| ENST00000288774.7:c.815_816del | ENSP00000288774.3:p.His272ProfsTer? | |
| ENST00000447513.6:c.755_756del | ENSP00000407922.2:p.His252ProfsTer? | |
| ENST00000507596.5:c.755_756del | ENSP00000424291.1:p.His252ProfsTer? | |
| ENST00000510434.1:c.*121_*122del | ENSP00000423051.1:n.*121_*122del | |
| NM_002617.3:c.755_756del | NP_002608.1:p.His252ProfsTer? | |
| NM_153818.1:c.815_816del | NP_722540.1:p.His272ProfsTer? | |
| XM_011541573.1:c.812_813del | XP_011539875.1:p.His271ProfsTer? | |
| XM_011541574.1:c.380_381del | XP_011539876.1:p.His127ProfsTer? | |
| XM_011541575.1:c.380_381del | XP_011539877.1:p.His127ProfsTer? | |
| XR_946666.1:n.871_872del | ||
| XR_946666.2:n.820_821del | ||
| NM_001374425.1:c.812_813del | NP_001361354.1:p.His271ProfsTer? | |
| NM_001374426.1:c.380_381del | NP_001361355.1:p.His127ProfsTer? | |
| NM_001374427.1:c.323_324del | NP_001361356.1:p.His108ProfsTer? | |
| NM_002617.4:c.755_756del MANE Select | NP_002608.1:p.His252ProfsTer? | |
| NM_153818.2:c.815_816del | NP_722540.1:p.His272ProfsTer? | |
| NR_164636.1:n.870_871del |