Linked Data
ClinVar Variation Id:
2675564
ClinVar RCV Id:
RCV003461489
dbSNP Id:
rs1376808000
gnomAD v2:
11-22646922-CA-C
gnomAD v3:
11-22625376-CA-C
gnomAD v4:
11-22625376-CA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.22625377del , CM000673.2:g.22625377del | GRCh38 |
| NC_000011.9:g.22646923del , CM000673.1:g.22646923del | GRCh37 |
| NC_000011.8:g.22603499del | NCBI36 |
| NG_007425.1:g.5465del , LRG_527:g.5465del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327470.6:c.434del MANE Select | ENSP00000330875.3:p.Met145SerfsTer18 | |
| ENST00000327470.4:c.434del | ENSP00000330875.3:p.Met145SerfsTer18 | |
| NM_022725.3:c.434del , LRG_527t1:c.434del | NP_073562.1:p.Met145SerfsTer18 | |
| NM_022725.4:c.434del MANE Select | NP_073562.1:p.Met145SerfsTer18 |