Linked Data
ClinVar Variation Id:
842095
ClinVar RCV Id:
RCV001044448
dbSNP Id:
rs1958911254
gnomAD v4:
16-3244578-CTG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3244580_3244581del , CM000678.2:g.3244580_3244581del | GRCh38 |
| NC_000016.9:g.3294580_3294581del , CM000678.1:g.3294580_3294581del | GRCh37 |
| NC_000016.8:g.3234581_3234582del | NCBI36 |
| NG_007871.1:g.17048_17049del , LRG_190:g.17048_17049del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697124.1:n.740_741del | ||
| ENST00000219596.6:c.1619_1620del MANE Select | ENSP00000219596.1:p.Thr540SerfsTer5 | |
| ENST00000219596.5:c.1619_1620del | ENSP00000219596.1:p.Thr540SerfsTer5 | |
| ENST00000339854.8:c.1079_1080del | ENSP00000339639.4:p.Thr360SerfsTer5 | |
| ENST00000536379.5:c.986_987del | ENSP00000445079.1:p.Thr329SerfsTer5 | |
| ENST00000536980.5:c.986_987del | ENSP00000444178.1:p.Thr329SerfsTer5 | |
| ENST00000537682.5:c.1619_1620del | ENSP00000438611.1:p.Thr540SerfsTer5 | |
| ENST00000538326.5:c.*244_*245del | ENSP00000437486.1:n.*244_*245del | |
| ENST00000539145.5:c.540_541del | ENSP00000444471.1:n.540_541del | |
| ENST00000541159.5:c.986_987del | ENSP00000438711.1:p.Thr329SerfsTer5 | |
| ENST00000542898.5:c.1712_1713del | ENSP00000444615.1:p.Thr571SerfsTer5 | |
| ENST00000570511.5:c.1165-688_1165-687del | ENSP00000458312.1:n.1165-688_1165-687del | |
| ENST00000572244.5:c.309_310del | ENSP00000461186.1:n.309_310del | |
| ENST00000574583.5:c.532-688_532-687del | ENSP00000460269.1:n.532-688_532-687del | |
| ENST00000576315.5:c.532-294_532-293del | ENSP00000460551.1:n.532-294_532-293del | |
| ENST00000621655.1:c.986_987del | ENSP00000481436.1:p.Thr329SerfsTer5 | |
| NM_000243.2:c.1619_1620del , LRG_190t1:c.1619_1620del | NP_000234.1:p.Thr540SerfsTer5 | |
| NM_001198536.1:c.986_987del | NP_001185465.1:p.Thr329SerfsTer5 | |
| XM_017023236.2:c.1616_1617del | XP_016878725.1:p.Thr539SerfsTer5 | |
| XR_001751903.1:n.1808_1809del | ||
| NM_000243.3:c.1619_1620del MANE Select | NP_000234.1:p.Thr540SerfsTer5 | |
| NM_001198536.2:c.986_987del | NP_001185465.2:p.Thr329SerfsTer5 |