Linked Data
ClinVar Variation Id:
822550
ClinVar RCV Id:
RCV001017987
dbSNP Id:
rs1597106275
gnomAD v4:
16-23641158-CGG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23641160_23641161del , CM000678.2:g.23641160_23641161del | GRCh38 |
| NC_000016.9:g.23652481_23652482del , CM000678.1:g.23652481_23652482del | GRCh37 |
| NC_000016.8:g.23559982_23559983del | NCBI36 |
| NG_007406.1:g.5198_5199del , LRG_308:g.5198_5199del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000561514.3:c.-855_-854del | ENSP00000460666.3:n.-855_-854del | |
| ENST00000565038.2:c.-3_-2del | ENSP00000459882.2:n.-3_-2del | |
| ENST00000566069.6:c.-3_-2del | ENSP00000459237.2:n.-3_-2del | |
| ENST00000697377.2:c.-242_-241del | ENSP00000513286.2:n.-242_-241del | |
| ENST00000697379.2:c.-148_-147del | ENSP00000513287.2:n.-148_-147del | |
| ENST00000561514.2:c.-1746_-1745del | ENSP00000460666.2:n.-1746_-1745del | |
| ENST00000697374.1:c.-1337_-1336del | ENSP00000513284.1:n.-1337_-1336del | |
| ENST00000697376.1:c.-1058_-1057del | ENSP00000513285.1:n.-1058_-1057del | |
| ENST00000697377.1:c.-1133_-1132del | ENSP00000513286.1:n.-1133_-1132del | |
| ENST00000697379.1:c.-1039_-1038del | ENSP00000513287.1:n.-1039_-1038del | |
| ENST00000697382.1:c.-1797_-1796del | ENSP00000513288.1:n.-1797_-1796del | |
| ENST00000697383.1:c.-3_-2del | ENSP00000513289.1:n.-3_-2del | |
| ENST00000697384.1:n.152_153del | ||
| ENST00000261584.9:c.-3_-2del MANE Select | ENSP00000261584.4:n.-3_-2del | |
| ENST00000261584.8:c.-3_-2del | ENSP00000261584.4:n.-3_-2del | |
| ENST00000567003.1:n.142_143del | ||
| ENST00000568219.5:c.-871_-870del | ENSP00000454703.2:n.-871_-870del | |
| NM_024675.3:c.-3_-2del , LRG_308t1:c.-3_-2del | NP_078951.2:n.-3_-2del | |
| XM_011545948.1:c.-1022_-1021del | XP_011544250.1:n.-1022_-1021del | |
| XM_011545946.2:c.-855_-854del | XP_011544248.1:n.-855_-854del | |
| XM_011545947.2:c.-855_-854del | XP_011544249.1:n.-855_-854del | |
| XM_011545948.2:c.-1022_-1021del | XP_011544250.1:n.-1022_-1021del | |
| XM_017023671.1:c.-855_-854del | XP_016879160.1:n.-855_-854del | |
| XM_017023672.2:c.-3_-2del | XP_016879161.1:n.-3_-2del | |
| XM_017023673.2:c.-3_-2del | XP_016879162.1:n.-3_-2del | |
| NM_024675.4:c.-3_-2del MANE Select | NP_078951.2:n.-3_-2del |