Linked Data
ClinVar Variation Id:
553859
ClinVar RCV Id:
RCV000669386
dbSNP Id:
rs774006219
ExAC:
10:55568727 GTTC / G
gnomAD v2:
10-55568727-GTTC-G
gnomAD v3:
10-53808967-GTTC-G
gnomAD v4:
10-53808967-GTTC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.53808977_53808979del , CM000672.2:g.53808977_53808979del | GRCh38 |
| NC_000010.10:g.55568737_55568739del , CM000672.1:g.55568737_55568739del | GRCh37 |
| NC_000010.9:g.55238743_55238745del | NCBI36 |
| NG_009191.2:g.997322_997324del | |
| NG_009191.3:g.1825213_1825215del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000613657.6:c.5095_5097del | ENSP00000482794.1:p.Glu1699del | |
| ENST00000395445.6:c.5074_5076del | ENSP00000378832.2:p.Glu1692del | |
| ENST00000613657.5:c.5095_5097del | ENSP00000482794.1:p.Glu1699del | |
| ENST00000642496.1:c.3530+1586_3530+1588del | ||
| ENST00000644397.2:c.4671+1586_4671+1588del MANE Select | ENSP00000495195.1:n.4671+1586_4671+1588del | |
| ENST00000373965.6:c.4482+1586_4482+1588del | ENSP00000363076.3:n.4482+1586_4482+1588del | |
| ENST00000395438.5:c.*510_*512del | ENSP00000378826.2:n.*510_*512del | |
| ENST00000395440.5:c.1882_1884del | ENSP00000378827.1:p.Glu628del | |
| ENST00000395442.5:c.1675_1677del | ENSP00000378829.1:p.Glu559del | |
| ENST00000395445.5:c.5074_5076del | ENSP00000378832.2:p.Glu1692del | |
| ENST00000395446.5:c.2668_2670del | ENSP00000378833.1:p.Glu890del | |
| ENST00000409834.5:c.*510_*512del | ENSP00000386693.1:n.*510_*512del | |
| ENST00000414367.5:c.*1133_*1135del | ENSP00000412531.1:n.*1133_*1135del | |
| ENST00000414778.5:c.4479+1586_4479+1588del | ENSP00000410304.2:n.4479+1586_4479+1588del | |
| ENST00000476074.5:n.609+1586_609+1588del | ||
| ENST00000495484.5:c.699+1586_699+1588del | ENSP00000480780.1:n.699+1586_699+1588del | |
| ENST00000612394.4:c.5092_5094del | ENSP00000482921.1:p.Glu1698del | |
| ENST00000613657.4:c.5095_5097del | ENSP00000482794.1:p.Glu1699del | |
| ENST00000614895.4:c.4494+1586_4494+1588del | ENSP00000478512.1:n.4494+1586_4494+1588del | |
| ENST00000615043.1:c.695_697del | ||
| ENST00000616114.4:c.4476+1586_4476+1588del | ENSP00000483745.1:n.4476+1586_4476+1588del | |
| ENST00000617271.4:c.*510_*512del | ENSP00000478076.1:n.*510_*512del | |
| ENST00000618301.4:c.831+1586_831+1588del | ENSP00000482780.1:n.831+1586_831+1588del | |
| ENST00000621708.4:c.4497+1586_4497+1588del | ENSP00000484454.1:n.4497+1586_4497+1588del | |
| NM_001142769.1:c.5095_5097del | NP_001136241.1:p.Glu1699del | |
| NM_001142770.1:c.*510_*512del | NP_001136242.1:n.*510_*512del | |
| NM_001142771.1:c.4497+1586_4497+1588del | NP_001136243.1:n.4497+1586_4497+1588del | |
| NM_001142772.1:c.4482+1586_4482+1588del | NP_001136244.1:n.4482+1586_4482+1588del | |
| NM_001142769.2:c.5095_5097del | NP_001136241.1:p.Glu1699del | |
| NM_001142770.2:c.*510_*512del | NP_001136242.1:n.*510_*512del | |
| NM_001354411.1:c.5074_5076del | NP_001341340.1:p.Glu1692del | |
| NM_001354420.1:c.4476+1586_4476+1588del | NP_001341349.1:n.4476+1586_4476+1588del | |
| NM_001354429.1:c.4605+1586_4605+1588del | NP_001341358.1:n.4605+1586_4605+1588del | |
| XM_017016573.2:c.5074_5076del | XP_016872062.1:p.Glu1692del | |
| XR_001747192.2:n.10963+1586_10963+1588del | ||
| XR_001747193.2:n.10954+1586_10954+1588del | ||
| NM_001142769.3:c.5095_5097del | NP_001136241.1:p.Glu1699del | |
| NM_001142770.3:c.*510_*512del | NP_001136242.1:n.*510_*512del | |
| NM_001142771.2:c.4497+1586_4497+1588del | NP_001136243.1:n.4497+1586_4497+1588del | |
| NM_001142772.2:c.4482+1586_4482+1588del | NP_001136244.1:n.4482+1586_4482+1588del | |
| NM_001354411.2:c.5074_5076del | NP_001341340.1:p.Glu1692del | |
| NM_001354420.2:c.4476+1586_4476+1588del | NP_001341349.1:n.4476+1586_4476+1588del | |
| NM_001354429.2:c.4605+1586_4605+1588del | NP_001341358.1:n.4605+1586_4605+1588del | |
| NM_001384140.1:c.4671+1586_4671+1588del MANE Select | NP_001371069.1:n.4671+1586_4671+1588del |