Linked Data
ClinVar Variation Id:
143819
ClinVar RCV Id:
RCV000133367
dbSNP Id:
rs267608415
PubMed:
PMID:21770923
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.18507135del , CM000685.2:g.18507135del | GRCh38 |
| NC_000023.10:g.18525255del , CM000685.1:g.18525255del | GRCh37 |
| NC_000023.9:g.18435176del | NCBI36 |
| NG_008475.1:g.86531del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000623535.2:c.39del MANE Select | ENSP00000485244.1:p.Phe13LeufsTer7 | |
| ENST00000635828.1:c.39del | ENSP00000490170.1:p.Phe13LeufsTer7 | |
| ENST00000637881.1:c.39del | ENSP00000489879.1:p.Phe13LeufsTer7 | |
| ENST00000674046.1:c.39del | ENSP00000501174.1:p.Phe13LeufsTer7 | |
| ENST00000379989.6:c.39del | ENSP00000369325.3:p.Phe13LeufsTer7 | |
| ENST00000379996.7:c.39del | ENSP00000369332.3:p.Phe13LeufsTer7 | |
| ENST00000463994.4:c.39del | ENSP00000485184.1:p.Phe13LeufsTer7 | |
| ENST00000623364.3:c.39del | ENSP00000485581.1:p.Phe13LeufsTer7 | |
| ENST00000623535.1:c.39del | ENSP00000485244.1:p.Phe13LeufsTer7 | |
| ENST00000624700.3:c.39del | ENSP00000485359.1:p.Phe13LeufsTer7 | |
| ENST00000624953.1:c.39del | ENSP00000485625.1:p.Phe13LeufsTer? | |
| NM_001037343.1:c.39del | NP_001032420.1:p.Phe13LeufsTer7 | |
| NM_003159.2:c.39del | NP_003150.1:p.Phe13LeufsTer7 | |
| XM_011545569.1:c.39del | XP_011543871.1:p.Phe13LeufsTer7 | |
| XM_011545570.1:c.-48del | XP_011543872.1:n.-48del | |
| XR_950484.1:n.291del | ||
| NM_001323289.1:c.39del | NP_001310218.1:p.Phe13LeufsTer7 | |
| NM_001323289.2:c.39del MANE Select | NP_001310218.1:p.Phe13LeufsTer7 | |
| NM_001037343.2:c.39del | NP_001032420.1:p.Phe13LeufsTer7 | |
| NM_003159.3:c.39del | NP_003150.1:p.Phe13LeufsTer7 |