Linked Data
ClinVar Variation Id:
803212
ClinVar RCV Id:
RCV000989520
dbSNP Id:
rs1440127051
gnomAD v2:
16-9858053-CTTG-C
gnomAD v3:
16-9764196-CTTG-C
gnomAD v4:
16-9764196-CTTG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.9764198_9764200del , CM000678.2:g.9764198_9764200del | GRCh38 |
| NC_000016.9:g.9858055_9858057del , CM000678.1:g.9858055_9858057del | GRCh37 |
| NC_000016.8:g.9765556_9765558del | NCBI36 |
| NG_011812.1:g.423556_423558del | |
| NG_011812.2:g.423556_423558del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330684.4:c.3345_3347del MANE Select | ENSP00000332549.3:p.Asp1115_Lys1116delinsGlu | |
| ENST00000535259.6:c.2874_2876del | ENSP00000441572.3:p.Asp958_Lys959delinsGlu | |
| ENST00000636273.2:n.2938_2940del | ||
| ENST00000674742.1:c.2874_2876del | ENSP00000502200.1:p.Asp958_Lys959delinsGlu | |
| ENST00000675398.1:c.*715_*717del | ENSP00000502752.1:n.*715_*717del | |
| ENST00000330684.3:c.3345_3347del | ENSP00000332549.3:p.Asp1115_Lys1116delinsGlu | |
| ENST00000396573.6:c.3345_3347del | ENSP00000379818.2:p.Asp1115_Lys1116delinsGlu | |
| ENST00000396575.6:c.2934_2936del | ENSP00000379820.3:p.Asp978_Lys979delinsGlu | |
| ENST00000461292.3:n.2984_2986del | ||
| ENST00000535259.5:c.2934_2936del | ENSP00000441572.2:p.Asp978_Lys979delinsGlu | |
| ENST00000562109.5:c.3345_3347del | ENSP00000454998.1:p.Asp1115_Lys1116delinsGlu | |
| NM_000833.4:c.3345_3347del | NP_000824.1:p.Asp1115_Lys1116delinsGlu | |
| NM_001134407.2:c.3345_3347del | NP_001127879.1:p.Asp1115_Lys1116delinsGlu | |
| NM_001134408.2:c.3345_3347del | NP_001127880.1:p.Asp1115_Lys1116delinsGlu | |
| XM_011522456.1:c.3186_3188del | XP_011520758.1:p.Asp1062_Lys1063delinsGlu | |
| XM_011522457.1:c.3087_3089del | XP_011520759.1:p.Asp1029_Lys1030delinsGlu | |
| XM_011522458.1:c.2874_2876del | XP_011520760.1:p.Asp958_Lys959delinsGlu | |
| XM_011522459.1:c.2874_2876del | XP_011520761.1:p.Asp958_Lys959delinsGlu | |
| XM_011522460.1:c.2874_2876del | XP_011520762.1:p.Asp958_Lys959delinsGlu | |
| XM_011522461.1:c.3345_3347del | XP_011520763.1:p.Asp1115_Lys1116delinsGlu | |
| XM_011522458.3:c.2874_2876del | XP_011520760.1:p.Asp958_Lys959delinsGlu | |
| XM_011522461.3:c.3345_3347del | XP_011520763.1:p.Asp1115_Lys1116delinsGlu | |
| XM_017023172.1:c.3501_3503del | XP_016878661.1:p.Asp1167_Lys1168delinsGlu | |
| XM_017023173.1:c.3501_3503del | XP_016878662.1:p.Asp1167_Lys1168delinsGlu | |
| NM_001134407.3:c.3345_3347del MANE Select | NP_001127879.1:p.Asp1115_Lys1116delinsGlu | |
| NM_000833.5:c.3345_3347del | NP_000824.1:p.Asp1115_Lys1116delinsGlu |