Linked Data
dbSNP Id:
rs1326649524
gnomAD v2:
1-230844025-TG-T
gnomAD v3:
1-230708279-TG-T
gnomAD v4:
1-230708279-TG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.230708280del , CM000663.2:g.230708280del | GRCh38 |
| NC_000001.10:g.230844026del , CM000663.1:g.230844026del | GRCh37 |
| NC_000001.9:g.228910649del | NCBI36 |
| NG_008836.1:g.11311del | |
| NG_008836.2:g.11311del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000366667.6:c.829+1715del MANE Select | ENSP00000355627.5:n.829+1715del | |
| ENST00000679684.1:c.829+1715del | ENSP00000505981.1:n.829+1715del | |
| ENST00000679738.1:c.829+1715del | ENSP00000505063.1:n.829+1715del | |
| ENST00000679802.1:c.*288+827del | ENSP00000505184.1:n.*288+827del | |
| ENST00000679854.1:n.3055del | ||
| ENST00000679957.1:c.829+1715del | ENSP00000506646.1:n.829+1715del | |
| ENST00000680041.1:c.829+1715del | ENSP00000504866.1:n.829+1715del | |
| ENST00000680783.1:c.829+1715del | ENSP00000506329.1:n.829+1715del | |
| ENST00000681269.1:c.829+1715del | ENSP00000505985.1:n.829+1715del | |
| ENST00000681347.1:n.1340+1715del | ||
| ENST00000681514.1:c.829+1715del | ENSP00000505963.1:n.829+1715del | |
| ENST00000681772.1:c.829+1715del | ENSP00000505829.1:n.829+1715del | |
| ENST00000366667.4:c.856+1715del | ENSP00000355627.4:n.856+1715del | |
| NM_000029.3:c.856+1715del | NP_000020.1:n.856+1715del | |
| NM_000029.4:c.856+1715del | NP_000020.1:n.856+1715del | |
| NM_001382817.3:c.829+1715del | NP_001369746.2:n.829+1715del | |
| NM_001384479.1:c.829+1715del MANE Select | NP_001371408.1:n.829+1715del |