Linked Data
ClinVar Variation Id:
11921
dbSNP Id:
rs786200915
gnomAD v2:
4-995488-C-CCTGCT
gnomAD v4:
4-1001700-C-CCTGCT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.1001702_1001706dup , CM000666.2:g.1001702_1001706dup | GRCh38 |
| NC_000004.11:g.995490_995494dup , CM000666.1:g.995490_995494dup | GRCh37 |
| NC_000004.10:g.985490_985494dup | NCBI36 |
| NG_008103.1:g.19706_19710dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000247933.9:c.613_617dup | ENSP00000247933.4:p.Glu207AlafsTer29 | |
| ENST00000514224.2:c.613_617dup MANE Select | ENSP00000425081.2:p.Glu207AlafsTer29 | |
| ENST00000652070.1:n.669_673dup | ||
| ENST00000247933.8:c.613_617dup | ENSP00000247933.4:p.Glu207AlafsTer29 | |
| ENST00000502910.5:c.472_476dup | ENSP00000422952.1:p.Glu160AlafsTer29 | |
| ENST00000504568.5:c.573_577dup | ||
| ENST00000509948.5:c.406_410dup | ENSP00000424227.1:p.Glu138AlafsTer29 | |
| ENST00000514192.5:c.430_434dup | ENSP00000423685.1:p.Glu146AlafsTer29 | |
| ENST00000514224.1:c.217_221dup | ENSP00000425081.1:p.Glu75AlafsTer29 | |
| ENST00000514698.5:n.513_517dup | ||
| NM_000203.4:c.613_617dup | NP_000194.2:p.Glu207AlafsTer29 | |
| NR_110313.1:n.701_705dup | ||
| XM_006713882.2:c.217_221dup | XP_006713945.1:p.Glu75AlafsTer29 | |
| XM_011513459.1:c.472_476dup | XP_011511761.1:p.Glu160AlafsTer29 | |
| XM_011513460.1:c.472_476dup | XP_011511762.1:p.Glu160AlafsTer29 | |
| XM_011513461.1:c.406_410dup | XP_011511763.1:p.Glu138AlafsTer29 | |
| XM_011513462.1:c.325_329dup | XP_011511764.1:p.Glu111AlafsTer29 | |
| XM_011513463.1:c.325_329dup | XP_011511765.1:p.Glu111AlafsTer29 | |
| XR_924947.1:n.682_686dup | ||
| NM_000203.5:c.613_617dup MANE Select | NP_000194.2:p.Glu207AlafsTer29 | |
| NM_001363576.1:c.217_221dup | NP_001350505.1:p.Glu75AlafsTer29 | |
| XM_011513461.2:c.406_410dup | XP_011511763.1:p.Glu138AlafsTer29 | |
| XM_017008163.1:c.-348_-344dup | XP_016863652.1:n.-348_-344dup |