Linked Data
ClinVar Variation Id:
371181
dbSNP Id:
rs1057517068
gnomAD v3:
7-117594992-A-AT
gnomAD v4:
7-117594992-A-AT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117594993dup , CM000669.2:g.117594993dup | GRCh38 |
| NC_000007.13:g.117235047dup , CM000669.1:g.117235047dup | GRCh37 |
| NC_000007.12:g.117022283dup | NCBI36 |
| NG_016465.4:g.134210dup , LRG_663:g.134210dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647720.2:c.2554dup | ENSP00000497673.2:p.Tyr852LeufsTer? | |
| ENST00000647978.2:c.*2268dup | ENSP00000497658.1:n.*2268dup | |
| ENST00000649781.2:c.2371dup | ENSP00000497203.1:p.Tyr791LeufsTer? | |
| ENST00000685018.2:c.2554dup | ENSP00000510194.2:p.Tyr852LeufsTer? | |
| ENST00000687278.2:c.2554dup | ENSP00000509593.2:p.Tyr852LeufsTer? | |
| ENST00000699585.1:c.2554dup | ENSP00000514456.1:p.Tyr852LeufsTer? | |
| ENST00000699598.1:c.2554dup | ENSP00000514467.1:p.Tyr852LeufsTer? | |
| ENST00000699599.1:c.2554dup | ENSP00000514468.1:p.Tyr852LeufsTer? | |
| ENST00000699600.1:c.2554dup | ENSP00000514469.1:p.Tyr852LeufsTer? | |
| ENST00000699601.1:c.*854dup | ENSP00000514470.1:n.*854dup | |
| ENST00000699602.1:c.2554dup | ENSP00000514471.1:p.Tyr852LeufsTer? | |
| ENST00000699604.1:c.*2378dup | ENSP00000514472.1:n.*2378dup | |
| ENST00000699605.1:c.2128dup | ENSP00000514473.1:p.Tyr710LeufsTer? | |
| ENST00000687278.1:c.145dup | ENSP00000509593.1:p.Tyr49LeufsTer? | |
| ENST00000003084.11:c.2554dup MANE Select | ENSP00000003084.6:p.Tyr852LeufsTer? | |
| ENST00000647720.1:c.204dup | ||
| ENST00000648260.1:c.1402-7833dup | ENSP00000497957.1:n.1402-7833dup | |
| ENST00000649406.1:c.2371dup | ENSP00000497965.1:p.Tyr791LeufsTer? | |
| ENST00000649781.1:c.2371dup | ENSP00000497203.1:p.Tyr791LeufsTer? | |
| ENST00000003084.10:c.2554dup | ENSP00000003084.6:p.Tyr852LeufsTer? | |
| ENST00000426809.5:c.2464dup | ENSP00000389119.1:p.Tyr822LeufsTer? | |
| NM_000492.3:c.2554dup , LRG_663t1:c.2554dup | NP_000483.3:p.Tyr852LeufsTer? | |
| XM_011515751.1:c.2644dup | XP_011514053.1:p.Tyr882LeufsTer? | |
| XM_011515752.1:c.2644dup | XP_011514054.1:p.Tyr882LeufsTer? | |
| XM_011515753.1:c.2311dup | XP_011514055.1:p.Tyr771LeufsTer? | |
| XM_011515754.1:c.2311dup | XP_011514056.1:p.Tyr771LeufsTer? | |
| NM_000492.4:c.2554dup MANE Select | NP_000483.3:p.Tyr852LeufsTer? |