Linked Data
ClinVar Variation Id:
375624
ClinVar RCV Id:
RCV000417101
dbSNP Id:
rs1057519408
PubMed:
PMID:28135719
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118499343_118499346del , CM000673.2:g.118499343_118499346del | GRCh38 |
| NC_000011.9:g.118370058_118370061del , CM000673.1:g.118370058_118370061del | GRCh37 |
| NC_000011.8:g.117875268_117875271del | NCBI36 |
| NG_027813.1:g.67854_67857del , LRG_613:g.67854_67857del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000531904.7:c.6101_6104del | ENSP00000432391.3:p.Phe2034TrpfsTer8 | |
| ENST00000710560.1:c.6092_6095del | ENSP00000518343.1:p.Phe2031TrpfsTer8 | |
| ENST00000649878.2:c.41_44del | ENSP00000497891.2:p.Phe14TrpfsTer8 | |
| ENST00000685397.1:c.41_44del | ENSP00000509586.1:p.Phe14TrpfsTer8 | |
| ENST00000686370.1:c.41_44del | ENSP00000509179.1:p.Phe14TrpfsTer8 | |
| ENST00000689424.1:c.299_302del | ENSP00000509852.1:p.Phe100TrpfsTer8 | |
| ENST00000691053.1:c.6074_6077del | ENSP00000509168.1:p.Phe2025TrpfsTer8 | |
| ENST00000389506.10:c.5993_5996del | ENSP00000374157.5:p.Phe1998TrpfsTer8 | |
| ENST00000528278.2:n.3857_3860del | ||
| ENST00000534358.8:c.6002_6005del MANE Select | ENSP00000436786.2:p.Phe2001TrpfsTer8 | |
| ENST00000649699.1:c.5879_5882del | ENSP00000496927.1:p.Phe1960TrpfsTer8 | |
| ENST00000389506.9:c.5993_5996del | ENSP00000374157.5:p.Phe1998TrpfsTer8 | |
| ENST00000534358.5:c.6002_6005del | ENSP00000436786.1:p.Phe2001TrpfsTer8 | |
| NM_001197104.1:c.6002_6005del , LRG_613t1:c.6002_6005del | NP_001184033.1:p.Phe2001TrpfsTer8 | |
| NM_005933.3:c.5993_5996del | NP_005924.2:p.Phe1998TrpfsTer8 | |
| XM_006718839.2:c.3485_3488del | XP_006718902.2:p.Phe1162TrpfsTer8 | |
| XM_011542829.1:c.6101_6104del | XP_011541131.1:p.Phe2034TrpfsTer8 | |
| XM_011542830.1:c.6098_6101del | XP_011541132.1:p.Phe2033TrpfsTer8 | |
| XM_011542831.1:c.6092_6095del | XP_011541133.1:p.Phe2031TrpfsTer8 | |
| XM_011542832.1:c.3908_3911del | XP_011541134.1:p.Phe1303TrpfsTer8 | |
| XM_011542833.1:c.3584_3587del | XP_011541135.1:p.Phe1195TrpfsTer8 | |
| XM_006718839.3:c.3485_3488del | XP_006718902.2:p.Phe1162TrpfsTer8 | |
| XM_011542829.2:c.6101_6104del | XP_011541131.1:p.Phe2034TrpfsTer8 | |
| XM_011542830.2:c.6098_6101del | XP_011541132.1:p.Phe2033TrpfsTer8 | |
| XM_011542831.2:c.6092_6095del | XP_011541133.1:p.Phe2031TrpfsTer8 | |
| XM_011542833.2:c.3584_3587del | XP_011541135.1:p.Phe1195TrpfsTer8 | |
| NM_001197104.2:c.6002_6005del MANE Select | NP_001184033.1:p.Phe2001TrpfsTer8 | |
| NM_005933.4:c.5993_5996del | NP_005924.2:p.Phe1998TrpfsTer8 |