Linked Data
dbSNP Id:
rs775054636
ExAC:
10:55568686 TTC / T
gnomAD v2:
10-55568686-TTC-T
gnomAD v4:
10-53808926-TTC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.53808928_53808929del , CM000672.2:g.53808928_53808929del | GRCh38 |
| NC_000010.10:g.55568688_55568689del , CM000672.1:g.55568688_55568689del | GRCh37 |
| NC_000010.9:g.55238694_55238695del | NCBI36 |
| NG_009191.2:g.997364_997365del | |
| NG_009191.3:g.1825255_1825256del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000613657.6:c.5137_5138del | ENSP00000482794.1:p.Glu1713LysfsTer5 | |
| ENST00000395445.6:c.5116_5117del | ENSP00000378832.2:p.Glu1706LysfsTer5 | |
| ENST00000613657.5:c.5137_5138del | ENSP00000482794.1:p.Glu1713LysfsTer5 | |
| ENST00000642496.1:c.3530+1628_3530+1629del | ||
| ENST00000644397.2:c.4671+1628_4671+1629del MANE Select | ENSP00000495195.1:n.4671+1628_4671+1629del | |
| ENST00000373965.6:c.4482+1628_4482+1629del | ENSP00000363076.3:n.4482+1628_4482+1629del | |
| ENST00000395438.5:c.*552_*553del | ENSP00000378826.2:n.*552_*553del | |
| ENST00000395440.5:c.1924_1925del | ENSP00000378827.1:p.Glu642LysfsTer5 | |
| ENST00000395442.5:c.1717_1718del | ENSP00000378829.1:p.Glu573LysfsTer5 | |
| ENST00000395445.5:c.5116_5117del | ENSP00000378832.2:p.Glu1706LysfsTer5 | |
| ENST00000395446.5:c.2710_2711del | ENSP00000378833.1:p.Glu904LysfsTer5 | |
| ENST00000409834.5:c.*552_*553del | ENSP00000386693.1:n.*552_*553del | |
| ENST00000414367.5:c.*1175_*1176del | ENSP00000412531.1:n.*1175_*1176del | |
| ENST00000414778.5:c.4479+1628_4479+1629del | ENSP00000410304.2:n.4479+1628_4479+1629del | |
| ENST00000476074.5:n.609+1628_609+1629del | ||
| ENST00000495484.5:c.699+1628_699+1629del | ENSP00000480780.1:n.699+1628_699+1629del | |
| ENST00000612394.4:c.5134_5135del | ENSP00000482921.1:p.Glu1712LysfsTer5 | |
| ENST00000613657.4:c.5137_5138del | ENSP00000482794.1:p.Glu1713LysfsTer5 | |
| ENST00000614895.4:c.4494+1628_4494+1629del | ENSP00000478512.1:n.4494+1628_4494+1629del | |
| ENST00000615043.1:c.737_738del | ||
| ENST00000616114.4:c.4476+1628_4476+1629del | ENSP00000483745.1:n.4476+1628_4476+1629del | |
| ENST00000617271.4:c.*552_*553del | ENSP00000478076.1:n.*552_*553del | |
| ENST00000618301.4:c.831+1628_831+1629del | ENSP00000482780.1:n.831+1628_831+1629del | |
| ENST00000621708.4:c.4497+1628_4497+1629del | ENSP00000484454.1:n.4497+1628_4497+1629del | |
| NM_001142769.1:c.5137_5138del | NP_001136241.1:p.Glu1713LysfsTer5 | |
| NM_001142770.1:c.*552_*553del | NP_001136242.1:n.*552_*553del | |
| NM_001142771.1:c.4497+1628_4497+1629del | NP_001136243.1:n.4497+1628_4497+1629del | |
| NM_001142772.1:c.4482+1628_4482+1629del | NP_001136244.1:n.4482+1628_4482+1629del | |
| NM_001142769.2:c.5137_5138del | NP_001136241.1:p.Glu1713LysfsTer5 | |
| NM_001142770.2:c.*552_*553del | NP_001136242.1:n.*552_*553del | |
| NM_001354411.1:c.5116_5117del | NP_001341340.1:p.Glu1706LysfsTer5 | |
| NM_001354420.1:c.4476+1628_4476+1629del | NP_001341349.1:n.4476+1628_4476+1629del | |
| NM_001354429.1:c.4605+1628_4605+1629del | NP_001341358.1:n.4605+1628_4605+1629del | |
| XM_017016573.2:c.5116_5117del | XP_016872062.1:p.Glu1706LysfsTer5 | |
| XR_001747192.2:n.10963+1628_10963+1629del | ||
| XR_001747193.2:n.10954+1628_10954+1629del | ||
| NM_001142769.3:c.5137_5138del | NP_001136241.1:p.Glu1713LysfsTer5 | |
| NM_001142770.3:c.*552_*553del | NP_001136242.1:n.*552_*553del | |
| NM_001142771.2:c.4497+1628_4497+1629del | NP_001136243.1:n.4497+1628_4497+1629del | |
| NM_001142772.2:c.4482+1628_4482+1629del | NP_001136244.1:n.4482+1628_4482+1629del | |
| NM_001354411.2:c.5116_5117del | NP_001341340.1:p.Glu1706LysfsTer5 | |
| NM_001354420.2:c.4476+1628_4476+1629del | NP_001341349.1:n.4476+1628_4476+1629del | |
| NM_001354429.2:c.4605+1628_4605+1629del | NP_001341358.1:n.4605+1628_4605+1629del | |
| NM_001384140.1:c.4671+1628_4671+1629del MANE Select | NP_001371069.1:n.4671+1628_4671+1629del |