Linked Data
ClinVar Variation Id:
374910
ClinVar RCV Id:
RCV000415551
dbSNP Id:
rs1057519302
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.8731518dup , CM000664.2:g.8731518dup | GRCh38 |
| NC_000002.11:g.8871648dup , CM000664.1:g.8871648dup | GRCh37 |
| NC_000002.10:g.8789099dup | NCBI36 |
| NG_053168.1:g.111124dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000685097.1:c.4223dup | ENSP00000510510.1:p.Leu1408PhefsTer4 | |
| ENST00000686383.1:n.4405dup | ||
| ENST00000686906.1:c.*408dup | ENSP00000508907.1:n.*408dup | |
| ENST00000687894.1:c.*1892dup | ENSP00000509577.1:n.*1892dup | |
| ENST00000687912.1:c.4025dup | ENSP00000508455.1:p.Leu1342PhefsTer4 | |
| ENST00000689369.1:c.3882+1928dup | ENSP00000509856.1:n.3882+1928dup | |
| ENST00000689852.1:c.3915+1928dup | ENSP00000510537.1:n.3915+1928dup | |
| ENST00000691030.1:c.4499dup | ENSP00000510148.1:p.Leu1500PhefsTer4 | |
| ENST00000693394.1:c.3882+1928dup | ENSP00000509014.1:n.3882+1928dup | |
| ENST00000693432.1:c.4053+1928dup | ENSP00000510486.1:n.4053+1928dup | |
| ENST00000693597.1:n.861+1928dup | ||
| ENST00000256707.8:c.4520dup MANE Select | ENSP00000256707.4:p.Leu1507PhefsTer4 | |
| ENST00000569008.2:c.3882+1928dup | ENSP00000491461.1:n.3882+1928dup | |
| ENST00000256707.7:c.4520dup | ENSP00000256707.3:p.Leu1507PhefsTer4 | |
| ENST00000473731.5:c.4463dup | ENSP00000418974.1:p.Leu1488PhefsTer4 | |
| ENST00000488729.5:c.*4409dup | ENSP00000417390.1:n.*4409dup | |
| ENST00000496383.5:c.3123+1928dup | ENSP00000420364.1:n.3123+1928dup | |
| NM_020738.2:c.4520dup | NP_065789.1:p.Leu1507PhefsTer4 | |
| NM_001348729.1:c.4523dup | NP_001335658.1:p.Leu1508PhefsTer4 | |
| NM_001348731.1:c.4466dup | NP_001335660.1:p.Leu1489PhefsTer4 | |
| NM_001348732.1:c.4463dup | NP_001335661.1:p.Leu1488PhefsTer4 | |
| NM_001348734.1:c.4352dup | NP_001335663.1:p.Leu1451PhefsTer4 | |
| NM_001348735.1:c.4349dup | NP_001335664.1:p.Leu1450PhefsTer4 | |
| NM_001348736.1:c.4223dup | NP_001335665.1:p.Leu1408PhefsTer4 | |
| NM_001348738.1:c.3996+1928dup | NP_001335667.1:n.3996+1928dup | |
| NM_001348739.1:c.3885+1928dup | NP_001335668.1:n.3885+1928dup | |
| NM_001348740.1:c.3885+1928dup | NP_001335669.1:n.3885+1928dup | |
| NM_001348741.1:c.3882+1928dup | NP_001335670.1:n.3882+1928dup | |
| NM_001348742.1:c.3882+1928dup | NP_001335671.1:n.3882+1928dup | |
| NM_001348743.1:c.3882+1928dup | NP_001335672.1:n.3882+1928dup | |
| NM_020738.3:c.4520dup | NP_065789.1:p.Leu1507PhefsTer4 | |
| NR_145964.1:n.4252+1928dup | ||
| NR_145965.1:n.4078+1928dup | ||
| NM_001348729.2:c.4523dup | NP_001335658.1:p.Leu1508PhefsTer4 | |
| NM_001348731.2:c.4466dup | NP_001335660.1:p.Leu1489PhefsTer4 | |
| NM_001348732.2:c.4463dup | NP_001335661.1:p.Leu1488PhefsTer4 | |
| NM_001348734.2:c.4352dup | NP_001335663.1:p.Leu1451PhefsTer4 | |
| NM_001348735.2:c.4349dup | NP_001335664.1:p.Leu1450PhefsTer4 | |
| NM_001348736.2:c.4223dup | NP_001335665.1:p.Leu1408PhefsTer4 | |
| NM_001348738.2:c.3996+1928dup | NP_001335667.1:n.3996+1928dup | |
| NM_001348739.2:c.3885+1928dup | NP_001335668.1:n.3885+1928dup | |
| NM_001348740.2:c.3885+1928dup | NP_001335669.1:n.3885+1928dup | |
| NM_001348741.2:c.3882+1928dup | NP_001335670.1:n.3882+1928dup | |
| NM_001348742.2:c.3882+1928dup | NP_001335671.1:n.3882+1928dup | |
| NM_001348743.2:c.3882+1928dup | NP_001335672.1:n.3882+1928dup | |
| NM_020738.4:c.4520dup MANE Select | NP_065789.1:p.Leu1507PhefsTer4 | |
| NR_145964.2:n.4226+1928dup | ||
| NR_145965.2:n.4052+1928dup |