Linked Data
dbSNP Id:
rs1403887687
MyVariant Identifiers:
chr7:g.117243295_117243296insGTTC (hg19)
chr7:g.117603241_117603242insGTTC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117603241_117603242insGTTC , CM000669.2:g.117603241_117603242insGTTC | GRCh38 |
| NC_000007.13:g.117243295_117243296insGTTC , CM000669.1:g.117243295_117243296insGTTC | GRCh37 |
| NC_000007.12:g.117030531_117030532insGTTC | NCBI36 |
| NG_016465.4:g.142458_142459insGTTC , LRG_663:g.142458_142459insGTTC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647720.2:c.2658-291_2658-290insGTTC | ENSP00000497673.2:n.2658-291_2658-290insGTTC | |
| ENST00000647978.2:c.*2372-291_*2372-290insGTTC | ENSP00000497658.1:n.*2372-291_*2372-290insGTTC | |
| ENST00000649781.2:c.2475-291_2475-290insGTTC | ENSP00000497203.1:n.2475-291_2475-290insGTTC | |
| ENST00000685018.2:c.2658-291_2658-290insGTTC | ENSP00000510194.2:n.2658-291_2658-290insGTTC | |
| ENST00000687278.2:c.2658-291_2658-290insGTTC | ENSP00000509593.2:n.2658-291_2658-290insGTTC | |
| ENST00000699585.1:c.2658-291_2658-290insGTTC | ENSP00000514456.1:n.2658-291_2658-290insGTTC | |
| ENST00000699598.1:c.2658-291_2658-290insGTTC | ENSP00000514467.1:n.2658-291_2658-290insGTTC | |
| ENST00000699599.1:c.2658-291_2658-290insGTTC | ENSP00000514468.1:n.2658-291_2658-290insGTTC | |
| ENST00000699600.1:c.2658-291_2658-290insGTTC | ENSP00000514469.1:n.2658-291_2658-290insGTTC | |
| ENST00000699601.1:c.*958-291_*958-290insGTTC | ENSP00000514470.1:n.*958-291_*958-290insGTTC | |
| ENST00000699602.1:c.2658-291_2658-290insGTTC | ENSP00000514471.1:n.2658-291_2658-290insGTTC | |
| ENST00000699604.1:c.*2482-291_*2482-290insGTTC | ENSP00000514472.1:n.*2482-291_*2482-290insGTTC | |
| ENST00000699605.1:c.2232-291_2232-290insGTTC | ENSP00000514473.1:n.2232-291_2232-290insGTTC | |
| ENST00000687278.1:c.249-291_249-290insGTTC | ENSP00000509593.1:n.249-291_249-290insGTTC | |
| ENST00000003084.11:c.2658-291_2658-290insGTTC MANE Select | ENSP00000003084.6:n.2658-291_2658-290insGTTC | |
| ENST00000647720.1:c.308-291_308-290insGTTC | ||
| ENST00000648260.1:c.1440-291_1440-290insGTTC | ENSP00000497957.1:n.1440-291_1440-290insGTTC | |
| ENST00000649406.1:c.2475-291_2475-290insGTTC | ENSP00000497965.1:n.2475-291_2475-290insGTTC | |
| ENST00000649781.1:c.2475-291_2475-290insGTTC | ENSP00000497203.1:n.2475-291_2475-290insGTTC | |
| ENST00000003084.10:c.2658-291_2658-290insGTTC | ENSP00000003084.6:n.2658-291_2658-290insGTTC | |
| ENST00000426809.5:c.2568-291_2568-290insGTTC | ENSP00000389119.1:n.2568-291_2568-290insGTTC | |
| NM_000492.3:c.2658-291_2658-290insGTTC , LRG_663t1:c.2658-291_2658-290insGTTC | NP_000483.3:n.2658-291_2658-290insGTTC | |
| XM_011515751.1:c.2748-291_2748-290insGTTC | XP_011514053.1:n.2748-291_2748-290insGTTC | |
| XM_011515752.1:c.2748-291_2748-290insGTTC | XP_011514054.1:n.2748-291_2748-290insGTTC | |
| XM_011515753.1:c.2415-291_2415-290insGTTC | XP_011514055.1:n.2415-291_2415-290insGTTC | |
| XM_011515754.1:c.2415-291_2415-290insGTTC | XP_011514056.1:n.2415-291_2415-290insGTTC | |
| NM_000492.4:c.2658-291_2658-290insGTTC MANE Select | NP_000483.3:n.2658-291_2658-290insGTTC |