Linked Data
ClinVar Variation Id:
2783479
ClinVar RCV Id:
RCV003629399
dbSNP Id:
rs1221686986
gnomAD v2:
11-18428647-TTTCA-T
gnomAD v4:
11-18407100-TTTCA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.18407103_18407106del , CM000673.2:g.18407103_18407106del | GRCh38 |
| NC_000011.9:g.18428650_18428653del , CM000673.1:g.18428650_18428653del | GRCh37 |
| NC_000011.8:g.18385226_18385229del | NCBI36 |
| NG_008185.1:g.17669_17672del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000422447.8:c.835-14_835-11del MANE Select | ENSP00000395337.3:n.835-14_835-11del | |
| ENST00000227157.8:c.711-14_711-11del | ENSP00000227157.4:n.711-14_711-11del | |
| ENST00000375710.7:n.1702-14_1702-11del | ||
| ENST00000379412.9:c.835-14_835-11del | ENSP00000368722.5:n.835-14_835-11del | |
| ENST00000396222.6:c.688-136_688-133del | ENSP00000379524.2:n.688-136_688-133del | |
| ENST00000422447.7:c.835-14_835-11del | ENSP00000395337.3:n.835-14_835-11del | |
| ENST00000430553.6:c.661-14_661-11del | ENSP00000406172.2:n.661-14_661-11del | |
| ENST00000538451.1:n.722-14_722-11del | ||
| ENST00000540430.5:c.922-14_922-11del | ENSP00000445175.1:n.922-14_922-11del | |
| ENST00000541097.5:c.*173-14_*173-11del | ENSP00000443362.1:n.*173-14_*173-11del | |
| ENST00000542179.1:c.835-14_835-11del | ENSP00000445331.1:n.835-14_835-11del | |
| ENST00000545215.5:c.*579-14_*579-11del | ENSP00000442637.1:n.*579-14_*579-11del | |
| NM_001135239.1:c.661-14_661-11del | NP_001128711.1:n.661-14_661-11del | |
| NM_001165414.1:c.922-14_922-11del | NP_001158886.1:n.922-14_922-11del | |
| NM_001165415.1:c.688-136_688-133del | NP_001158887.1:n.688-136_688-133del | |
| NM_001165416.1:c.711-14_711-11del | NP_001158888.1:n.711-14_711-11del | |
| NM_005566.3:c.835-14_835-11del | NP_005557.1:n.835-14_835-11del | |
| NR_028500.1:n.989-14_989-11del | ||
| NM_005566.4:c.835-14_835-11del MANE Select | NP_005557.1:n.835-14_835-11del | |
| NM_001165415.2:c.688-136_688-133del | NP_001158887.1:n.688-136_688-133del | |
| NM_001135239.2:c.661-14_661-11del | NP_001128711.1:n.661-14_661-11del | |
| NM_001165414.2:c.922-14_922-11del | NP_001158886.1:n.922-14_922-11del | |
| NM_001165416.2:c.711-14_711-11del | NP_001158888.1:n.711-14_711-11del | |
| NR_028500.2:n.815-14_815-11del |