Linked Data
dbSNP Id:
rs758249242
ExAC:
7:150555021 CCTT / C
gnomAD v2:
7-150555021-CCTT-C
gnomAD v3:
7-150857933-CCTT-C
gnomAD v4:
7-150857933-CCTT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150857936_150857938del , CM000669.2:g.150857936_150857938del | GRCh38 |
| NC_000007.13:g.150555024_150555026del , CM000669.1:g.150555024_150555026del | GRCh37 |
| NC_000007.12:g.150185957_150185959del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360937.9:c.1466_1468del MANE Select | ENSP00000354193.4:p.Phe489del | |
| ENST00000360937.8:c.1466_1468del | ENSP00000354193.4:p.Phe489del | |
| ENST00000416793.6:c.1466_1468del | ENSP00000411613.2:p.Phe489del | |
| ENST00000467291.5:c.1466_1468del | ENSP00000418328.1:p.Phe489del | |
| ENST00000480582.1:n.4_6del | ||
| ENST00000493429.5:c.1466_1468del | ENSP00000418614.1:p.Phe489del | |
| ENST00000619575.1:c.1463_1465del | ENSP00000481717.1:p.Phe488del | |
| ENST00000622116.4:c.44_46del | ENSP00000481520.1:p.Phe15del | |
| NM_001091.3:c.1466_1468del | NP_001082.2:p.Phe489del | |
| NM_001272072.1:c.1466_1468del | NP_001259001.1:p.Phe489del | |
| XM_011516008.1:c.1466_1468del | XP_011514310.1:p.Phe489del | |
| XM_011516009.1:c.1466_1468del | XP_011514311.1:p.Phe489del | |
| XR_928169.1:n.296-16491_296-16489del | ||
| XR_928170.1:n.425+10680_425+10682del | ||
| XR_928171.1:n.298-16491_298-16489del | ||
| XM_017011944.1:c.1466_1468del | XP_016867433.1:p.Phe489del | |
| XM_017011945.1:c.1466_1468del | XP_016867434.1:p.Phe489del | |
| XM_017011946.2:c.1466_1468del | XP_016867435.1:p.Phe489del | |
| XM_017011947.1:c.1466_1468del | XP_016867436.1:p.Phe489del | |
| XR_928169.2:n.302-16491_302-16489del | ||
| XR_928171.2:n.302-16491_302-16489del | ||
| NM_001091.4:c.1466_1468del MANE Select | NP_001082.2:p.Phe489del | |
| NM_001272072.2:c.1466_1468del | NP_001259001.1:p.Phe489del |