Linked Data
dbSNP Id:
rs1227207787
gnomAD v2:
8-43048912-ACC-A
gnomAD v3:
8-43193769-ACC-A
gnomAD v4:
8-43193769-ACC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.43193770_43193771del , CM000670.2:g.43193770_43193771del | GRCh38 |
| NC_000008.10:g.43048913_43048914del , CM000670.1:g.43048913_43048914del | GRCh37 |
| NC_000008.9:g.43168070_43168071del | NCBI36 |
| NG_009552.1:g.58322_58323del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379644.9:c.1391_1392del MANE Select | ENSP00000368965.4:p.Thr464ArgfsTer5 | |
| ENST00000379644.8:c.1391_1392del | ENSP00000368965.4:p.Thr464ArgfsTer5 | |
| ENST00000520678.1:n.324_325del | ||
| ENST00000521576.1:c.542_543del | ENSP00000429029.1:p.Thr181ArgfsTer5 | |
| ENST00000524016.5:c.495_496del | ||
| NM_152419.2:c.1391_1392del | NP_689632.2:p.Thr464ArgfsTer5 | |
| XM_005273409.1:c.1391_1392del | XP_005273466.1:p.Thr464ArgfsTer5 | |
| XM_005273410.1:c.1391_1392del | XP_005273467.1:p.Thr464ArgfsTer5 | |
| XM_005273411.1:c.1199_1200del | XP_005273468.1:p.Thr400ArgfsTer5 | |
| XM_005273412.2:c.1391_1392del | XP_005273469.1:p.Thr464ArgfsTer5 | |
| NM_001363227.1:c.1391_1392del | NP_001350156.1:p.Thr464ArgfsTer5 | |
| NM_001363228.1:c.1199_1200del | NP_001350157.1:p.Thr400ArgfsTer5 | |
| NM_001363229.1:c.527_528del | NP_001350158.1:p.Thr176ArgfsTer5 | |
| XM_005273412.4:c.1391_1392del | XP_005273469.1:p.Thr464ArgfsTer5 | |
| NM_152419.3:c.1391_1392del MANE Select | NP_689632.2:p.Thr464ArgfsTer5 | |
| NM_001363227.2:c.1391_1392del | NP_001350156.1:p.Thr464ArgfsTer5 | |
| NM_001363228.2:c.1199_1200del | NP_001350157.1:p.Thr400ArgfsTer5 | |
| NM_001363229.2:c.527_528del | NP_001350158.1:p.Thr176ArgfsTer5 |