Linked Data
ClinVar Variation Id:
89001
ClinVar RCV Id:
RCV000074485
dbSNP Id:
rs398122416
PubMed:
PMID:24076603
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.23645942del , CM000677.2:g.23645942del | GRCh38 |
| NC_000015.9:g.23891089del , CM000677.1:g.23891089del | GRCh37 |
| NC_000015.8:g.21442182del | NCBI36 |
| NG_016776.1:g.6906del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000650528.1:c.1802del MANE Select | ENSP00000497810.1:p.Pro601GlnfsTer? | |
| ENST00000532292.2:c.1802del | ENSP00000433433.2:p.Pro601GlnfsTer? | |
| NM_019066.4:c.1802del | NP_061939.3:p.Pro601GlnfsTer? | |
| NM_019066.5:c.1802del MANE Select | NP_061939.3:p.Pro601GlnfsTer? |