Linked Data
dbSNP Id:
rs1202857693
gnomAD v2:
4-995591-GCGCCACTGCCA-G
gnomAD v3:
4-1001803-GCGCCACTGCCA-G
gnomAD v4:
4-1001803-GCGCCACTGCCA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.1001806_1001816del , CM000666.2:g.1001806_1001816del | GRCh38 |
| NC_000004.11:g.995594_995604del , CM000666.1:g.995594_995604del | GRCh37 |
| NC_000004.10:g.985594_985604del | NCBI36 |
| NG_008103.1:g.19810_19820del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000247933.9:c.717_727del | ENSP00000247933.4:p.His240ArgfsTer? | |
| ENST00000514224.2:c.717_727del MANE Select | ENSP00000425081.2:p.His240ArgfsTer? | |
| ENST00000652070.1:n.773_783del | ||
| ENST00000247933.8:c.717_727del | ENSP00000247933.4:p.His240ArgfsTer? | |
| ENST00000502910.5:c.576_586del | ENSP00000422952.1:p.His193ArgfsTer? | |
| ENST00000509948.5:c.510_520del | ENSP00000424227.1:p.His171ArgfsTer? | |
| ENST00000514192.5:c.534_544del | ENSP00000423685.1:p.His179ArgfsTer? | |
| ENST00000514224.1:c.321_331del | ENSP00000425081.1:p.His108ArgfsTer? | |
| ENST00000514698.5:n.617_627del | ||
| NM_000203.4:c.717_727del | NP_000194.2:p.His240ArgfsTer? | |
| NR_110313.1:n.805_815del | ||
| XM_006713882.2:c.321_331del | XP_006713945.1:p.His108ArgfsTer? | |
| XM_011513459.1:c.576_586del | XP_011511761.1:p.His193ArgfsTer? | |
| XM_011513460.1:c.576_586del | XP_011511762.1:p.His193ArgfsTer? | |
| XM_011513461.1:c.510_520del | XP_011511763.1:p.His171ArgfsTer? | |
| XM_011513462.1:c.429_439del | XP_011511764.1:p.His144ArgfsTer? | |
| XM_011513463.1:c.429_439del | XP_011511765.1:p.His144ArgfsTer? | |
| XR_924947.1:n.786_796del | ||
| NM_000203.5:c.717_727del MANE Select | NP_000194.2:p.His240ArgfsTer? | |
| NM_001363576.1:c.321_331del | NP_001350505.1:p.His108ArgfsTer? | |
| XM_011513461.2:c.510_520del | XP_011511763.1:p.His171ArgfsTer? | |
| XM_017008163.1:c.-244_-234del | XP_016863652.1:n.-244_-234del |