Linked Data
ClinVar Variation Id:
213239
dbSNP Id:
rs112666443
ExAC:
5:127640782 AG / A
gnomAD v2:
5-127640782-AG-A
gnomAD v3:
5-128305090-AG-A
gnomAD v4:
5-128305090-AG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128305091del , CM000667.2:g.128305091del | GRCh38 |
| NC_000005.9:g.127640783del , CM000667.1:g.127640783del | GRCh37 |
| NC_000005.8:g.127668682del | NCBI36 |
| NG_008750.1:g.237953del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000703783.1:n.2459-9del | ||
| ENST00000703785.1:n.2378-9del | ||
| ENST00000262464.9:c.5675-9del MANE Select | ENSP00000262464.4:n.5675-9del | |
| ENST00000262464.8:c.5675-9del | ENSP00000262464.4:n.5675-9del | |
| ENST00000508053.5:c.5675-9del | ENSP00000424571.1:n.5675-9del | |
| ENST00000619499.4:c.5672-9del | ENSP00000482132.1:n.5672-9del | |
| NM_001999.3:c.5675-9del | NP_001990.2:n.5675-9del | |
| XM_017009228.2:c.5522-9del | XP_016864717.1:n.5522-9del | |
| NM_001999.4:c.5675-9del MANE Select | NP_001990.2:n.5675-9del |