Linked Data
ClinVar Variation Id:
2428942
ClinVar RCV Id:
RCV003123183
gnomAD v4:
4-41746005-TGCCGCGGCCGCC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.41746011_41746022del , CM000666.2:g.41746011_41746022del | GRCh38 |
| NC_000004.11:g.41748028_41748039del , CM000666.1:g.41748028_41748039del | GRCh37 |
| NC_000004.10:g.41442785_41442796del | NCBI36 |
| NG_008243.1:g.7954_7965del , LRG_513:g.7954_7965del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000226382.4:c.735_746del MANE Select | ENSP00000226382.2:p.Ala246_Ala249del | |
| ENST00000226382.3:c.735_746del | ENSP00000226382.2:p.Ala246_Ala249del | |
| NM_003924.3:c.735_746del , LRG_513t1:c.735_746del | NP_003915.2:p.Ala246_Ala249del | |
| NM_003924.4:c.735_746del MANE Select | NP_003915.2:p.Ala246_Ala249del |