Linked Data
ClinVar Variation Id:
6256
ClinVar RCV Id:
RCV000006634
dbSNP Id:
rs587776635
PubMed:
PMID:9989495
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.85267921del , CM000663.2:g.85267921del | GRCh38 |
| NC_000001.10:g.85733604del , CM000663.1:g.85733604del | GRCh37 |
| NC_000001.9:g.85506192del | NCBI36 |
| NG_012216.1:g.14982del | |
| NG_012216.2:g.13986del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000620248.3:c.377del | ENSP00000480561.2:p.Asn126IlefsTer11 | |
| ENST00000620248.2:c.377del | ENSP00000480561.2:p.Asn126IlefsTer11 | |
| ENST00000648566.1:c.410del MANE Select | ENSP00000498104.1:p.Asn137IlefsTer11 | |
| ENST00000650582.1:n.941del | ||
| ENST00000370580.5:c.410del | ENSP00000359612.1:p.Asn137IlefsTer11 | |
| ENST00000620248.1:c.377del | ENSP00000480561.1:p.Asn126IlefsTer11 | |
| NM_003921.4:c.410del | NP_003912.1:p.Asn137IlefsTer11 | |
| XM_005271311.2:c.377del | XP_005271368.1:p.Asn126IlefsTer11 | |
| XM_011542397.1:c.569del | XP_011540699.1:p.Asn190IlefsTer11 | |
| XM_011542398.1:c.536del | XP_011540700.1:p.Asn179IlefsTer11 | |
| XM_011542399.1:c.356del | XP_011540701.1:p.Asn119IlefsTer11 | |
| NM_001320715.1:c.377del | NP_001307644.1:p.Asn126IlefsTer11 | |
| NM_003921.5:c.410del MANE Select | NP_003912.1:p.Asn137IlefsTer11 | |
| XM_011542397.3:c.569del | XP_011540699.1:p.Asn190IlefsTer11 | |
| XM_011542398.2:c.536del | XP_011540700.1:p.Asn179IlefsTer11 | |
| XM_011542399.2:c.356del | XP_011540701.1:p.Asn119IlefsTer11 | |
| NM_001320715.2:c.377del | NP_001307644.1:p.Asn126IlefsTer11 |