Linked Data
ClinVar Variation Id:
102746
dbSNP Id:
rs199475697
gnomAD v2:
12-103249006-TCATAGCAAGCATGGGTTTTATA-T
gnomAD v3:
12-102855228-TCATAGCAAGCATGGGTTTTATA-T
gnomAD v4:
12-102855228-TCATAGCAAGCATGGGTTTTATA-T
ERepo:
CA229638/MONDO:0009861/006
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102855231_102855252del , CM000674.2:g.102855231_102855252del | GRCh38 |
| NC_000012.11:g.103249009_103249030del , CM000674.1:g.103249009_103249030del | GRCh37 |
| NC_000012.10:g.101773139_101773160del | NCBI36 |
| NG_008690.1:g.67353_67374del | |
| NG_008690.2:g.108161_108182del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000553106.6:c.592_613del MANE Select | ENSP00000448059.1:p.Tyr198SerfsTer? | |
| ENST00000307000.7:c.577_598del | ENSP00000303500.2:p.Tyr193SerfsTer? | |
| ENST00000549111.5:n.688_709del | ||
| ENST00000553106.5:c.592_613del | ENSP00000448059.1:p.Tyr198SerfsTer? | |
| NM_000277.1:c.592_613del | NP_000268.1:p.Tyr198SerfsTer? | |
| XM_011538422.1:c.592_613del | XP_011536724.1:p.Tyr198SerfsTer? | |
| NM_000277.2:c.592_613del | NP_000268.1:p.Tyr198SerfsTer? | |
| NM_001354304.1:c.592_613del | NP_001341233.1:p.Tyr198SerfsTer? | |
| XM_017019370.2:c.592_613del | XP_016874859.1:p.Tyr198SerfsTer? | |
| NM_000277.3:c.592_613del MANE Select | NP_000268.1:p.Tyr198SerfsTer? | |
| NM_001354304.2:c.592_613del | NP_001341233.1:p.Tyr198SerfsTer? |