Linked Data
ClinVar Variation Id:
43102
ClinVar RCV Id:
RCV000035997
RCV000629000
RCV003333020
RCV003333021
RCV003333017
RCV003333018
RCV003333019
dbSNP Id:
rs397516266
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23431584del , CM000676.2:g.23431584del | GRCh38 |
| NC_000014.8:g.23900793del , CM000676.1:g.23900793del | GRCh37 |
| NC_000014.7:g.22970633del | NCBI36 |
| NG_007884.1:g.9078del , LRG_384:g.9078del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.732+1del MANE Select | ENSP00000347507.3:n.732+1del | |
| ENST00000355349.3:c.732+1del | ENSP00000347507.3:n.732+1del | |
| NM_000257.3:c.732+1del | NP_000248.2:n.732+1del | |
| XR_245686.3:n.838+1del | ||
| XM_017021340.1:c.732+1del | XP_016876829.1:n.732+1del | |
| NM_000257.4:c.732+1del MANE Select | NP_000248.2:n.732+1del |