Linked Data
dbSNP Id:
rs1719048217
gnomAD v3:
3-190404768-TGGTGGTAACTCGA-T
gnomAD v4:
3-190404768-TGGTGGTAACTCGA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.190404770_190404782del , CM000665.2:g.190404770_190404782del | GRCh38 |
| NC_000003.11:g.190122559_190122571del , CM000665.1:g.190122559_190122571del | GRCh37 |
| NC_000003.10:g.191605253_191605265del | NCBI36 |
| NG_008149.1:g.21719_21731del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264734.3:c.226_238del MANE Select | ENSP00000264734.3:p.Val76ArgfsTer2 | |
| ENST00000456423.2:c.115-5133_115-5121del | ENSP00000414136.2:n.115-5133_115-5121del | |
| ENST00000264734.2:c.436_448del | ENSP00000264734.2:p.Val146ArgfsTer2 | |
| ENST00000456423.1:c.325-5133_325-5121del | ENSP00000414136.1:n.325-5133_325-5121del | |
| ENST00000468220.1:n.418_430del | ||
| NM_006580.3:c.436_448del | NP_006571.1:p.Val146ArgfsTer2 | |
| NM_001378492.1:c.226_238del | NP_001365421.1:p.Val76ArgfsTer2 | |
| NM_001378493.1:c.226_238del | NP_001365422.1:p.Val76ArgfsTer2 | |
| NM_006580.4:c.226_238del MANE Select | NP_006571.2:p.Val76ArgfsTer2 |