Linked Data
ClinVar Variation Id:
378060
ClinVar RCV Id:
RCV000419031
dbSNP Id:
rs1057520307
PubMed:
PMID:27273344
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.48872_48892del , CM000672.2:g.48872_48892del | GRCh38 |
| NC_000010.10:g.94812_94832del , CM000672.1:g.94812_94832del | GRCh37 |
| NC_000010.9:g.84812_84832del | NCBI36 |
| NG_046777.1:g.32566_32586del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000568584.6:c.80_100del MANE Select | ENSP00000456206.2:p.Glu27_Ala33del | |
| ENST00000561967.1:c.80_100del | ENSP00000454878.1:p.Glu27_Ala33del | |
| ENST00000562809.1:c.58-165_58-145del | ENSP00000456899.1:n.58-165_58-145del | |
| ENST00000563456.1:n.111_131del | ||
| ENST00000564130.2:c.4_24del | ENSP00000457610.1:p.Asn2_Leu8del | |
| ENST00000567466.1:c.4_24del | ENSP00000454914.1:p.Asn2_Leu8del | |
| ENST00000568584.5:c.80_100del | ENSP00000456206.1:p.Glu27_Ala33del | |
| ENST00000568866.5:c.80_100del | ENSP00000457062.1:p.Glu27_Ala33del | |
| NM_177987.2:c.80_100del | NP_817124.1:p.Glu27_Ala33del | |
| XM_011519458.1:c.-137_-117del | XP_011517760.1:n.-137_-117del | |
| XM_011519459.1:c.-137_-117del | XP_011517761.1:n.-137_-117del | |
| XM_011519459.3:c.-137_-117del | XP_011517761.1:n.-137_-117del | |
| NM_177987.3:c.80_100del MANE Select | NP_817124.1:p.Glu27_Ala33del | |
| NM_001389618.1:c.-137_-117del | NP_001376547.1:n.-137_-117del | |
| NM_001389619.1:c.-137_-117del | NP_001376548.1:n.-137_-117del |