Linked Data
ClinVar Variation Id:
2117793
ClinVar RCV Id:
RCV003658657
gnomAD v4:
12-132673233-GTA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.132673234_132673235del , CM000674.2:g.132673234_132673235del | GRCh38 |
| NC_000012.11:g.133249820_133249821del , CM000674.1:g.133249820_133249821del | GRCh37 |
| NC_000012.10:g.131759893_131759894del | NCBI36 |
| NG_033840.1:g.19290_19291del , LRG_789:g.19290_19291del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000539215.6:c.110_111del | ||
| ENST00000545015.2:n.1429_1430del | ||
| ENST00000699982.1:c.1256_1257del | ||
| ENST00000699983.1:c.1256_1257del | ||
| ENST00000699984.1:c.1256_1257del | ||
| ENST00000320574.10:c.1402_1403del MANE Select | ENSP00000322570.5:p.Tyr468ProfsTer? | |
| ENST00000672742.1:c.*904_*905del | ENSP00000500279.1:n.*904_*905del | |
| ENST00000320574.9:c.1402_1403del | ENSP00000322570.5:p.Tyr468ProfsTer? | |
| ENST00000535270.5:c.1321_1322del | ENSP00000445753.1:p.Tyr441ProfsTer? | |
| ENST00000535934.2:n.1277_1278del | ||
| ENST00000537064.5:c.*449_*450del | ENSP00000442578.1:n.*449_*450del | |
| ENST00000539215.5:n.110_111del | ||
| NM_006231.3:c.1402_1403del , LRG_789t1:c.1402_1403del | NP_006222.2:p.Tyr468ProfsTer? | |
| XM_011534795.1:c.1402_1403del | XP_011533097.1:p.Tyr468ProfsTer? | |
| XM_011534796.1:c.1273_1274del | XP_011533098.1:p.Tyr425ProfsTer? | |
| XM_011534797.1:c.481_482del | XP_011533099.1:p.Tyr161ProfsTer? | |
| XM_011534798.1:c.64_65del | XP_011533100.1:p.Tyr22ProfsTer? | |
| XM_011534799.1:c.1402_1403del | XP_011533101.1:p.Tyr468ProfsTer? | |
| XM_011534800.1:c.1402_1403del | XP_011533102.1:p.Tyr468ProfsTer? | |
| XM_011534801.1:c.1402_1403del | XP_011533103.1:p.Tyr468ProfsTer? | |
| XR_941395.1:n.1611_1612del | ||
| XM_011534795.3:c.1402_1403del | XP_011533097.1:p.Tyr468ProfsTer? | |
| XM_011534797.3:c.481_482del | XP_011533099.1:p.Tyr161ProfsTer? | |
| XM_011534799.2:c.1402_1403del | XP_011533101.1:p.Tyr468ProfsTer? | |
| XR_002957338.1:n.1606_1607del | ||
| XR_002957339.1:n.1606_1607del | ||
| XR_941395.2:n.1606_1607del | ||
| NM_006231.4:c.1402_1403del MANE Select | NP_006222.2:p.Tyr468ProfsTer? |