Linked Data
dbSNP Id:
rs758856999
ExAC:
4:6293108 C / CCA
gnomAD v2:
4-6293108-C-CCA
gnomAD v4:
4-6291381-C-CCA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.6291382_6291383insAC , CM000666.2:g.6291382_6291383insAC | GRCh38 |
| NC_000004.11:g.6293109_6293110insAC , CM000666.1:g.6293109_6293110insAC | GRCh37 |
| NC_000004.10:g.6344010_6344011insAC | NCBI36 |
| NG_011700.1:g.26533_26534insAC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682275.1:c.631+15_631+16insAC | ENSP00000507852.1:n.631+15_631+16insAC | |
| ENST00000683395.1:c.608+28_608+29insAC | ||
| ENST00000684087.1:c.631+15_631+16insAC | ENSP00000506978.1:n.631+15_631+16insAC | |
| ENST00000684700.1:c.646_647insAC | ENSP00000507806.1:p.Pro216HisfsTer? | |
| ENST00000506362.2:c.382+15_382+16insAC | ENSP00000424103.2:n.382+15_382+16insAC | |
| ENST00000673642.1:c.430+15_430+16insAC | ENSP00000501242.1:n.430+15_430+16insAC | |
| ENST00000673991.1:c.631+15_631+16insAC | ENSP00000501033.1:n.631+15_631+16insAC | |
| ENST00000226760.5:c.631+15_631+16insAC MANE Select | ENSP00000226760.1:n.631+15_631+16insAC | |
| ENST00000503569.5:c.631+15_631+16insAC | ENSP00000423337.1:n.631+15_631+16insAC | |
| ENST00000506362.1:c.228+15_228+16insAC | ||
| ENST00000507765.1:n.816+15_816+16insAC | ||
| NM_001145853.1:c.631+15_631+16insAC | NP_001139325.1:n.631+15_631+16insAC | |
| NM_006005.3:c.631+15_631+16insAC MANE Select | NP_005996.2:n.631+15_631+16insAC | |
| XM_017008586.1:c.640+15_640+16insAC | XP_016864075.1:n.640+15_640+16insAC |