Linked Data
ClinVar Variation Id:
2169967
ClinVar RCV Id:
RCV003088486
dbSNP Id:
rs1207655631
gnomAD v3:
1-215671297-CA-C
gnomAD v4:
1-215671297-CA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215671298del , CM000663.2:g.215671298del | GRCh38 |
| NC_000001.10:g.215844640del , CM000663.1:g.215844640del | GRCh37 |
| NC_000001.9:g.213911263del | NCBI36 |
| NG_009497.1:g.757099del | |
| NG_009497.2:g.757151del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.13812-5del MANE Select | ENSP00000305941.3:n.13812-5del | |
| ENST00000674083.1:c.13812-5del | ENSP00000501296.1:n.13812-5del | |
| ENST00000307340.7:c.13812-5del | ENSP00000305941.3:n.13812-5del | |
| NM_206933.2:c.13812-5del | NP_996816.2:n.13812-5del | |
| NM_206933.3:c.13812-5del | NP_996816.2:n.13812-5del | |
| NM_206933.4:c.13812-5del MANE Select | NP_996816.3:n.13812-5del |