Linked Data
ClinVar Variation Id:
14282
ClinVar RCV Id:
RCV000015352
dbSNP Id:
rs797044444
PubMed:
PMID:9683607
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.236861195_236861196del , CM000663.2:g.236861195_236861196del | GRCh38 |
| NC_000001.10:g.237024495_237024496del , CM000663.1:g.237024495_237024496del | GRCh37 |
| NC_000001.9:g.235091118_235091119del | NCBI36 |
| NG_008959.1:g.70915_70916del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366577.10:c.2114_2115del MANE Select | ENSP00000355536.5:p.Leu705GlnfsTer4 | |
| ENST00000535889.6:c.2044-1041_2044-1040del | ENSP00000441845.1:n.2044-1041_2044-1040del | |
| ENST00000650888.1:c.*1156_*1157del | ENSP00000498393.1:n.*1156_*1157del | |
| ENST00000651455.1:c.*858_*859del | ENSP00000498963.1:n.*858_*859del | |
| ENST00000674797.2:c.1766_1767del | ENSP00000502299.2:p.Leu589GlnfsTer4 | |
| ENST00000679569.1:n.2428_2429del | ||
| ENST00000679842.1:c.2114_2115del | ENSP00000506109.1:p.Leu705GlnfsTer4 | |
| ENST00000680454.1:n.2558_2559del | ||
| ENST00000681102.1:c.1934_1935del | ENSP00000505600.1:p.Leu645GlnfsTer4 | |
| ENST00000681177.1:c.1676_1677del | ENSP00000506327.1:p.Leu559GlnfsTer4 | |
| ENST00000681937.1:n.2308_2309del | ||
| ENST00000366576.3:c.776_777del | ENSP00000355535.3:p.Leu259GlnfsTer4 | |
| ENST00000366577.9:c.2114_2115del | ENSP00000355536.5:p.Leu705GlnfsTer4 | |
| ENST00000535889.5:c.2044-1041_2044-1040del | ENSP00000441845.1:n.2044-1041_2044-1040del | |
| NM_000254.2:c.2114_2115del | NP_000245.2:p.Leu705GlnfsTer4 | |
| NM_001291939.1:c.2044-1041_2044-1040del | NP_001278868.1:n.2044-1041_2044-1040del | |
| NM_001291940.1:c.893_894del | NP_001278869.1:p.Leu298GlnfsTer4 | |
| XM_005273141.3:c.2111_2112del | XP_005273198.1:p.Leu704GlnfsTer4 | |
| XM_006711769.2:c.2114_2115del | XP_006711832.1:p.Leu705GlnfsTer4 | |
| XM_006711770.1:c.1178_1179del | XP_006711833.1:p.Leu393GlnfsTer4 | |
| XM_011544193.1:c.2114_2115del | XP_011542495.1:p.Leu705GlnfsTer4 | |
| XM_011544194.1:c.2282_2283del | XP_011542496.1:p.Leu761GlnfsTer4 | |
| XM_005273141.5:c.2111_2112del | XP_005273198.1:p.Leu704GlnfsTer4 | |
| XM_006711770.3:c.1178_1179del | XP_006711833.1:p.Leu393GlnfsTer4 | |
| XM_011544194.3:c.2282_2283del | XP_011542496.1:p.Leu761GlnfsTer4 | |
| XM_017001329.2:c.2212-1041_2212-1040del | XP_016856818.1:n.2212-1041_2212-1040del | |
| XM_017001330.2:c.2282_2283del | XP_016856819.1:p.Leu761GlnfsTer4 | |
| NM_001291940.2:c.893_894del | NP_001278869.1:p.Leu298GlnfsTer4 | |
| NM_000254.3:c.2114_2115del MANE Select | NP_000245.2:p.Leu705GlnfsTer4 |