Linked Data
ClinVar Variation Id:
3060355
ClinVar RCV Id:
RCV003977295
dbSNP Id:
rs750527298
ExAC:
6:31324524 GCC / G
gnomAD v2:
6-31324524-GCC-G
gnomAD v3:
6-31356747-GCC-G
gnomAD v4:
6-31356747-GCC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31356748_31356749del , CM000668.2:g.31356748_31356749del | GRCh38 |
| NC_000006.11:g.31324525_31324526del , CM000668.1:g.31324525_31324526del | GRCh37 |
| NC_000006.10:g.31432504_31432505del | NCBI36 |
| NG_023187.1:g.5464_5465del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000474381.2:n.1755_1756del | ||
| ENST00000481849.6:n.1755_1756del | ||
| ENST00000497377.6:n.1755_1756del | ||
| ENST00000640094.2:c.282_283del | ENSP00000491275.2:p.Gln94HisfsTer4 | |
| ENST00000696558.1:c.282_283del | ENSP00000512716.1:p.Gln94HisfsTer4 | |
| ENST00000696559.1:c.282_283del | ENSP00000512717.1:p.Gln94HisfsTer4 | |
| ENST00000696560.1:c.282_283del | ENSP00000512718.1:p.Gln94HisfsTer4 | |
| ENST00000696561.1:c.282_283del | ENSP00000512719.1:p.Gln94HisfsTer4 | |
| ENST00000696562.1:c.282_283del | ENSP00000512720.1:p.Gln94HisfsTer4 | |
| ENST00000412585.7:c.282_283del MANE Select | ENSP00000399168.2:p.Gln94HisfsTer4 | |
| ENST00000412585.6:c.282_283del | ENSP00000399168.2:p.Gln94HisfsTer4 | |
| ENST00000434333.1:c.315_316del | ENSP00000405931.1:p.Gln105HisfsTer4 | |
| ENST00000474381.1:n.157_158del | ||
| ENST00000498007.1:n.303_304del | ||
| ENST00000603274.1:n.102_103del | ||
| NM_005514.6:c.282_283del | NP_005505.2:p.Gln94HisfsTer4 | |
| XM_011514556.1:c.315_316del | XP_011512858.1:p.Gln105HisfsTer4 | |
| XM_011514557.1:c.282_283del | XP_011512859.1:p.Gln94HisfsTer4 | |
| XR_926175.1:n.292_293del | ||
| NM_005514.7:c.282_283del | NP_005505.2:p.Gln94HisfsTer4 | |
| NM_005514.8:c.282_283del MANE Select | NP_005505.2:p.Gln94HisfsTer4 |