Linked Data
ClinVar Variation Id:
30553
ClinVar RCV Id:
RCV000023511
dbSNP Id:
rs71524374
gnomAD v4:
4-6301725-GTGCTGTTC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.6301731_6301738del , CM000666.2:g.6301731_6301738del | GRCh38 |
| NC_000004.11:g.6303458_6303465del , CM000666.1:g.6303458_6303465del | GRCh37 |
| NC_000004.10:g.6354359_6354366del | NCBI36 |
| NG_011700.1:g.36882_36889del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682275.1:c.1972_1979del | ENSP00000507852.1:p.Phe658ValfsTer? | |
| ENST00000683395.1:c.1913_1920del | ||
| ENST00000684087.1:c.1936_1943del | ENSP00000506978.1:p.Phe646ValfsTer? | |
| ENST00000506362.2:c.1687_1694del | ENSP00000424103.2:p.Phe563ValfsTer? | |
| ENST00000673642.1:c.1595_1602del | ENSP00000501242.1:n.1595_1602del | |
| ENST00000673991.1:c.1972_1979del | ENSP00000501033.1:p.Phe658ValfsTer? | |
| ENST00000226760.5:c.1936_1943del MANE Select | ENSP00000226760.1:p.Phe646ValfsTer? | |
| ENST00000503569.5:c.1936_1943del | ENSP00000423337.1:p.Phe646ValfsTer? | |
| ENST00000507765.1:n.2121_2128del | ||
| NM_001145853.1:c.1936_1943del | NP_001139325.1:p.Phe646ValfsTer? | |
| NM_006005.3:c.1936_1943del MANE Select | NP_005996.2:p.Phe646ValfsTer? | |
| XM_017008586.1:c.1945_1952del | XP_016864075.1:p.Phe649ValfsTer? |