Linked Data
ClinVar Variation Id:
1918691
ClinVar RCV Id:
RCV002630115
dbSNP Id:
rs746431694
ExAC:
16:3293897 GGA / G
gnomAD v2:
16-3293897-GGA-G
gnomAD v4:
16-3243897-GGA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3243900_3243901del , CM000678.2:g.3243900_3243901del | GRCh38 |
| NC_000016.9:g.3293900_3293901del , CM000678.1:g.3293900_3293901del | GRCh37 |
| NC_000016.8:g.3233901_3233902del | NCBI36 |
| NG_007871.1:g.17729_17730del , LRG_190:g.17729_17730del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697124.1:n.881-7_881-6del | ||
| ENST00000219596.6:c.1760-7_1760-6del MANE Select | ENSP00000219596.1:n.1760-7_1760-6del | |
| ENST00000219596.5:c.1760-7_1760-6del | ENSP00000219596.1:n.1760-7_1760-6del | |
| ENST00000339854.8:c.1220-7_1220-6del | ENSP00000339639.4:n.1220-7_1220-6del | |
| ENST00000536379.5:c.1127-7_1127-6del | ENSP00000445079.1:n.1127-7_1127-6del | |
| ENST00000536980.5:c.*36-7_*36-6del | ENSP00000444178.1:n.*36-7_*36-6del | |
| ENST00000537682.5:c.*36-7_*36-6del | ENSP00000438611.1:n.*36-7_*36-6del | |
| ENST00000538326.5:c.*385-7_*385-6del | ENSP00000437486.1:n.*385-7_*385-6del | |
| ENST00000539145.5:c.681-7_681-6del | ENSP00000444471.1:n.681-7_681-6del | |
| ENST00000541159.5:c.1295_1296del | ENSP00000438711.1:p.Leu432ProfsTer2 | |
| ENST00000542898.5:c.*36-7_*36-6del | ENSP00000444615.1:n.*36-7_*36-6del | |
| ENST00000570511.5:c.1165-7_1165-6del | ENSP00000458312.1:n.1165-7_1165-6del | |
| ENST00000572244.5:c.450-7_450-6del | ENSP00000461186.1:n.450-7_450-6del | |
| ENST00000574583.5:c.532-7_532-6del | ENSP00000460269.1:n.532-7_532-6del | |
| ENST00000576315.5:c.565-7_565-6del | ENSP00000460551.1:n.565-7_565-6del | |
| ENST00000621655.1:c.1290_1291del | ENSP00000481436.1:n.1290_1291del | |
| NM_000243.2:c.1760-7_1760-6del , LRG_190t1:c.1760-7_1760-6del | NP_000234.1:n.1760-7_1760-6del | |
| NM_001198536.1:c.1295_1296del | NP_001185465.1:p.Leu432ProfsTer2 | |
| XM_017023236.2:c.1757-7_1757-6del | XP_016878725.1:n.1757-7_1757-6del | |
| XR_001751903.1:n.2067-7_2067-6del | ||
| NM_000243.3:c.1760-7_1760-6del MANE Select | NP_000234.1:n.1760-7_1760-6del | |
| NM_001198536.2:c.1295_1296del | NP_001185465.2:p.Leu432ProfsTer2 |