Linked Data
ClinVar Variation Id:
835010
ClinVar RCV Id:
RCV001035810
dbSNP Id:
rs1331118515
gnomAD v2:
18-29104725-CGATGCA-C
gnomAD v4:
18-31524762-CGATGCA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31524767_31524772del , CM000680.2:g.31524767_31524772del | GRCh38 |
| NC_000018.9:g.29104730_29104735del , CM000680.1:g.29104730_29104735del | GRCh37 |
| NC_000018.8:g.27358728_27358733del | NCBI36 |
| NG_007072.3:g.31526_31531del , LRG_397:g.31526_31531del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682087.2:n.724_729del | ||
| ENST00000683614.2:n.724_729del | ||
| ENST00000682087.1:c.724_729del | ||
| ENST00000683614.1:c.724_729del | ||
| ENST00000261590.13:c.893_898del MANE Select | ENSP00000261590.8:p.Ala298_Asp299del | |
| ENST00000261590.12:c.893_898del | ENSP00000261590.8:p.Ala298_Asp299del | |
| NM_001943.3:c.893_898del , LRG_397t1:c.893_898del | NP_001934.2:p.Ala298_Asp299del | |
| NM_001943.4:c.893_898del | NP_001934.2:p.Ala298_Asp299del | |
| XM_024451095.1:c.359_364del | XP_024306863.1:p.Ala120_Asp121del | |
| NM_001943.5:c.893_898del MANE Select | NP_001934.2:p.Ala298_Asp299del |