Linked Data
ClinVar Variation Id:
422888
ClinVar RCV Id:
RCV000481312
dbSNP Id:
rs1064796070
gnomAD v2:
12-52309151-CG-C
gnomAD v3:
12-51915367-CG-C
gnomAD v4:
12-51915367-CG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.51915368del , CM000674.2:g.51915368del | GRCh38 |
| NC_000012.11:g.52309152del , CM000674.1:g.52309152del | GRCh37 |
| NC_000012.10:g.50595419del | NCBI36 |
| NG_009549.1:g.12951del , LRG_543:g.12951del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000547400.6:c.646del | ENSP00000446724.2:p.Ala216ArgfsTer? | |
| ENST00000551576.6:c.916del | ENSP00000455848.2:p.Ala306ArgfsTer? | |
| ENST00000552678.2:c.916del | ENSP00000457394.2:p.Ala306ArgfsTer? | |
| ENST00000388922.9:c.916del MANE Select | ENSP00000373574.4:p.Ala306ArgfsTer? | |
| ENST00000388922.8:c.916del | ENSP00000373574.4:p.Ala306ArgfsTer? | |
| ENST00000419526.6:c.394del | ENSP00000392492.2:p.Ala132ArgfsTer? | |
| ENST00000550683.5:c.958del | ENSP00000447884.1:p.Ala320ArgfsTer? | |
| NM_000020.2:c.916del , LRG_543t1:c.916del | NP_000011.2:p.Ala306ArgfsTer? | |
| NM_001077401.1:c.916del | NP_001070869.1:p.Ala306ArgfsTer? | |
| XM_005269235.2:c.916del | XP_005269292.1:p.Ala306ArgfsTer? | |
| XM_011539008.1:c.646del | XP_011537310.1:p.Ala216ArgfsTer? | |
| XM_024449279.1:c.127del | XP_024305047.1:p.Ala43ArgfsTer? | |
| NM_000020.3:c.916del MANE Select | NP_000011.2:p.Ala306ArgfsTer? | |
| NM_001077401.2:c.916del | NP_001070869.1:p.Ala306ArgfsTer? |