Linked Data
ClinVar Variation Id:
1934889
ClinVar RCV Id:
RCV002638844
dbSNP Id:
rs774062066
ExAC:
16:16263480 TGAG / T
gnomAD v2:
16-16263480-TGAG-T
gnomAD v3:
16-16169623-TGAG-T
gnomAD v4:
16-16169623-TGAG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.16169628_16169630del , CM000678.2:g.16169628_16169630del | GRCh38 |
| NC_000016.9:g.16263485_16263487del , CM000678.1:g.16263485_16263487del | GRCh37 |
| NC_000016.8:g.16170986_16170988del | NCBI36 |
| NG_007558.2:g.58846_58848del | |
| NG_007558.3:g.58992_58994del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000622290.5:c.2995+20_2995+22del | ENSP00000483331.2:n.2995+20_2995+22del | |
| ENST00000205557.12:c.2995+20_2995+22del MANE Select | ENSP00000205557.7:n.2995+20_2995+22del | |
| ENST00000205557.11:c.2995+20_2995+22del | ENSP00000205557.7:n.2995+20_2995+22del | |
| ENST00000456970.6:c.2820+20_2820+22del | ENSP00000405002.2:n.2820+20_2820+22del | |
| ENST00000622290.4:c.*204+20_*204+22del | ENSP00000483331.1:n.*204+20_*204+22del | |
| NM_001171.5:c.2995+20_2995+22del | NP_001162.4:n.2995+20_2995+22del | |
| XM_011522479.1:c.2962+20_2962+22del | XP_011520781.1:n.2962+20_2962+22del | |
| XM_011522480.1:c.2653+20_2653+22del | XP_011520782.1:n.2653+20_2653+22del | |
| XM_011522481.1:c.2653+20_2653+22del | XP_011520783.1:n.2653+20_2653+22del | |
| XR_932836.1:n.3230+20_3230+22del | ||
| XR_932837.1:n.3231+20_3231+22del | ||
| XR_932838.1:n.3231+20_3231+22del | ||
| NM_001351800.1:c.2653+20_2653+22del | NP_001338729.1:n.2653+20_2653+22del | |
| NR_147784.1:n.2857+20_2857+22del | ||
| XM_011522479.2:c.2962+20_2962+22del | XP_011520781.1:n.2962+20_2962+22del | |
| XM_011522481.3:c.2653+20_2653+22del | XP_011520783.1:n.2653+20_2653+22del | |
| XM_017023212.1:c.2827+20_2827+22del | XP_016878701.1:n.2827+20_2827+22del | |
| XM_017023214.1:c.2995+20_2995+22del | XP_016878703.1:n.2995+20_2995+22del | |
| XM_024450261.1:c.3031+20_3031+22del | XP_024306029.1:n.3031+20_3031+22del | |
| XR_932836.2:n.3176+20_3176+22del | ||
| XR_932837.3:n.3176+20_3176+22del | ||
| XR_932838.3:n.3176+20_3176+22del | ||
| NM_001171.6:c.2995+20_2995+22del MANE Select | NP_001162.5:n.2995+20_2995+22del |