Linked Data
ClinVar Variation Id:
212806
dbSNP Id:
rs863223416
ExAC:
12:52307432 CTGGG / C
gnomAD v2:
12-52307432-CTGGG-C
gnomAD v3:
12-51913648-CTGGG-C
gnomAD v4:
12-51913648-CTGGG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.51913651_51913654del , CM000674.2:g.51913651_51913654del | GRCh38 |
| NC_000012.11:g.52307435_52307438del , CM000674.1:g.52307435_52307438del | GRCh37 |
| NC_000012.10:g.50593702_50593705del | NCBI36 |
| NG_009549.1:g.11234_11237del , LRG_543:g.11234_11237del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000547400.6:c.355+301_355+304del | ENSP00000446724.2:n.355+301_355+304del | |
| ENST00000551576.6:c.406_409del | ENSP00000455848.2:p.Gly136SerfsTer28 | |
| ENST00000552678.2:c.406_409del | ENSP00000457394.2:p.Gly136SerfsTer28 | |
| ENST00000388922.9:c.406_409del MANE Select | ENSP00000373574.4:p.Gly136SerfsTer28 | |
| ENST00000388922.8:c.406_409del | ENSP00000373574.4:p.Gly136SerfsTer28 | |
| ENST00000419526.6:c.104-788_104-785del | ENSP00000392492.2:n.104-788_104-785del | |
| ENST00000547400.5:c.355+301_355+304del | ENSP00000446724.1:n.355+301_355+304del | |
| ENST00000550683.5:c.448_451del | ENSP00000447884.1:p.Gly150SerfsTer28 | |
| NM_000020.2:c.406_409del , LRG_543t1:c.406_409del | NP_000011.2:p.Gly136SerfsTer28 | |
| NM_001077401.1:c.406_409del | NP_001070869.1:p.Gly136SerfsTer28 | |
| XM_005269235.2:c.406_409del | XP_005269292.1:p.Gly136SerfsTer28 | |
| XM_011539008.1:c.355+301_355+304del | XP_011537310.1:n.355+301_355+304del | |
| XM_024449279.1:c.-284_-281del | XP_024305047.1:n.-284_-281del | |
| NM_000020.3:c.406_409del MANE Select | NP_000011.2:p.Gly136SerfsTer28 | |
| NM_001077401.2:c.406_409del | NP_001070869.1:p.Gly136SerfsTer28 |