Linked Data
ClinVar Variation Id:
6263
ClinVar RCV Id:
RCV000006641
dbSNP Id:
rs387906351
ExAC:
1:85736510 AT / A
gnomAD v2:
1-85736510-AT-A
gnomAD v3:
1-85270827-AT-A
gnomAD v4:
1-85270827-AT-A
COSMIC:
COSM391505
PubMed:
PMID:9989495
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.85270835del , CM000663.2:g.85270835del | GRCh38 |
| NC_000001.10:g.85736518del , CM000663.1:g.85736518del | GRCh37 |
| NC_000001.9:g.85509106del | NCBI36 |
| NG_012216.1:g.12073del | |
| NG_012216.2:g.11077del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000620248.3:c.136del | ENSP00000480561.2:p.Ile46TyrfsTer24 | |
| ENST00000620248.2:c.136del | ENSP00000480561.2:p.Ile46TyrfsTer24 | |
| ENST00000648566.1:c.136del MANE Select | ENSP00000498104.1:p.Ile46TyrfsTer24 | |
| ENST00000649060.1:c.*1245del | ENSP00000497490.1:n.*1245del | |
| ENST00000649434.1:n.202del | ||
| ENST00000650582.1:n.667del | ||
| ENST00000370580.5:c.136del | ENSP00000359612.1:p.Ile46TyrfsTer24 | |
| ENST00000620248.1:c.136del | ENSP00000480561.1:p.Ile46TyrfsTer24 | |
| NM_003921.4:c.136del | NP_003912.1:p.Ile46TyrfsTer24 | |
| XM_005271311.2:c.136del | XP_005271368.1:p.Ile46TyrfsTer24 | |
| XM_011542397.1:c.295del | XP_011540699.1:p.Ile99TyrfsTer24 | |
| XM_011542398.1:c.295del | XP_011540700.1:p.Ile99TyrfsTer24 | |
| XM_011542399.1:c.82del | XP_011540701.1:p.Ile28TyrfsTer24 | |
| NM_001320715.1:c.136del | NP_001307644.1:p.Ile46TyrfsTer24 | |
| NM_003921.5:c.136del MANE Select | NP_003912.1:p.Ile46TyrfsTer24 | |
| XM_011542397.3:c.295del | XP_011540699.1:p.Ile99TyrfsTer24 | |
| XM_011542398.2:c.295del | XP_011540700.1:p.Ile99TyrfsTer24 | |
| XM_011542399.2:c.82del | XP_011540701.1:p.Ile28TyrfsTer24 | |
| NM_001320715.2:c.136del | NP_001307644.1:p.Ile46TyrfsTer24 |