Linked Data
ClinVar Variation Id:
319100
ClinVar RCV Id:
RCV000402334
dbSNP Id:
rs746257932
gnomAD v2:
16-3292671-TCAA-T
gnomAD v3:
16-3242671-TCAA-T
gnomAD v4:
16-3242671-TCAA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3242672_3242674del , CM000678.2:g.3242672_3242674del | GRCh38 |
| NC_000016.9:g.3292672_3292674del , CM000678.1:g.3292672_3292674del | GRCh37 |
| NC_000016.8:g.3232673_3232675del | NCBI36 |
| NG_007871.1:g.18954_18956del , LRG_190:g.18954_18956del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000219596.6:c.*467_*469del MANE Select | ENSP00000219596.1:n.*467_*469del | |
| ENST00000219596.5:c.*467_*469del | ENSP00000219596.1:n.*467_*469del | |
| ENST00000339854.8:c.*467_*469del | ENSP00000339639.4:n.*467_*469del | |
| ENST00000536980.5:c.*1089_*1091del | ENSP00000444178.1:n.*1089_*1091del | |
| ENST00000537682.5:c.*1089_*1091del | ENSP00000438611.1:n.*1089_*1091del | |
| ENST00000538326.5:c.*1438_*1440del | ENSP00000437486.1:n.*1438_*1440del | |
| ENST00000542898.5:c.*1089_*1091del | ENSP00000444615.1:n.*1089_*1091del | |
| NM_000243.2:c.*467_*469del , LRG_190t1:c.*467_*469del | NP_000234.1:n.*467_*469del | |
| NM_001198536.1:c.*1017_*1019del | NP_001185465.1:n.*1017_*1019del | |
| NM_000243.3:c.*467_*469del MANE Select | NP_000234.1:n.*467_*469del | |
| NM_001198536.2:c.*1017_*1019del | NP_001185465.2:n.*1017_*1019del |