Linked Data
ClinVar Variation Id:
411315
ClinVar RCV Id:
RCV000476471
dbSNP Id:
rs1060503249
gnomAD v4:
12-51913766-TG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.51913771del , CM000674.2:g.51913771del | GRCh38 |
| NC_000012.11:g.52307555del , CM000674.1:g.52307555del | GRCh37 |
| NC_000012.10:g.50593822del | NCBI36 |
| NG_009549.1:g.11354del , LRG_543:g.11354del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000547400.6:c.355+421del | ENSP00000446724.2:n.355+421del | |
| ENST00000551576.6:c.525+1del | ||
| ENST00000552678.2:c.525+1del | ||
| ENST00000388922.9:c.525+1del | ||
| ENST00000388922.8:c.525+1del | ||
| ENST00000419526.6:c.104-668del | ENSP00000392492.2:n.104-668del | |
| ENST00000547400.5:c.355+421del | ENSP00000446724.1:n.355+421del | |
| ENST00000550683.5:c.567+1del | ||
| NM_000020.2:c.525+1del , LRG_543t1:c.525+1del | ||
| NM_001077401.1:c.525+1del | ||
| XM_005269235.2:c.525+1del | ||
| XM_011539008.1:c.355+421del | XP_011537310.1:n.355+421del | |
| XM_024449279.1:c.-165+1del | ||
| NM_000020.3:c.525+1del | ||
| NM_001077401.2:c.525+1del |