Linked Data
ClinVar Variation Id:
2915252
ClinVar RCV Id:
RCV003652964
dbSNP Id:
rs1750584693
gnomAD v3:
5-112707592-G-GC
gnomAD v4:
5-112707592-G-GC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112707592_112707593insC , CM000667.2:g.112707592_112707593insC | GRCh38 |
| NC_000005.9:g.112043289_112043290insC , CM000667.1:g.112043289_112043290insC | GRCh37 |
| NC_000005.8:g.112071188_112071189insC | NCBI36 |
| NG_008481.4:g.20072_20073insC , LRG_130:g.20072_20073insC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000505350.2:c.-126_-125insC | ENSP00000481752.1:n.-126_-125insC | |
| ENST00000507379.6:c.-126_-125insC | ENSP00000423224.2:n.-126_-125insC | |
| ENST00000509732.6:c.-76_-75insC | ENSP00000426541.2:n.-76_-75insC | |
| ENST00000505350.1:c.-126_-125insC | ENSP00000481752.1:n.-126_-125insC | |
| ENST00000507379.5:c.-126_-125insC | ENSP00000423224.1:n.-126_-125insC | |
| ENST00000509732.5:c.-76_-75insC | ENSP00000426541.1:n.-76_-75insC | |
| NM_001127511.2:c.-126_-125insC | NP_001120983.2:n.-126_-125insC | |
| NM_001354895.1:c.-309_-308insC | NP_001341824.1:n.-309_-308insC | |
| NM_001354897.1:c.-126_-125insC | NP_001341826.1:n.-126_-125insC | |
| NM_001354902.1:c.-126_-125insC | NP_001341831.1:n.-126_-125insC | |
| NM_001127511.3:c.-126_-125insC | NP_001120983.2:n.-126_-125insC | |
| NM_001354895.2:c.-309_-308insC | NP_001341824.1:n.-309_-308insC | |
| NM_001354897.2:c.-126_-125insC | NP_001341826.1:n.-126_-125insC | |
| NM_001354902.2:c.-126_-125insC | NP_001341831.1:n.-126_-125insC |