Linked Data
dbSNP Id:
rs1792363777
gnomAD v2:
7-117250478-G-GA
gnomAD v3:
7-117610424-G-GA
gnomAD v4:
7-117610424-G-GA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117610424_117610425insA , CM000669.2:g.117610424_117610425insA | GRCh38 |
| NC_000007.13:g.117250478_117250479insA , CM000669.1:g.117250478_117250479insA | GRCh37 |
| NC_000007.12:g.117037714_117037715insA | NCBI36 |
| NG_016465.4:g.149641_149642insA , LRG_663:g.149641_149642insA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647720.2:c.2989-95_2989-94insA | ENSP00000497673.2:n.2989-95_2989-94insA | |
| ENST00000647978.2:c.*2703-95_*2703-94insA | ENSP00000497658.1:n.*2703-95_*2703-94insA | |
| ENST00000649781.2:c.2806-95_2806-94insA | ENSP00000497203.1:n.2806-95_2806-94insA | |
| ENST00000685018.2:c.2989-95_2989-94insA | ENSP00000510194.2:n.2989-95_2989-94insA | |
| ENST00000687278.2:c.2989-95_2989-94insA | ENSP00000509593.2:n.2989-95_2989-94insA | |
| ENST00000699585.1:c.2989-95_2989-94insA | ENSP00000514456.1:n.2989-95_2989-94insA | |
| ENST00000699598.1:c.2989-95_2989-94insA | ENSP00000514467.1:n.2989-95_2989-94insA | |
| ENST00000699599.1:c.2989-95_2989-94insA | ENSP00000514468.1:n.2989-95_2989-94insA | |
| ENST00000699600.1:c.2989-95_2989-94insA | ENSP00000514469.1:n.2989-95_2989-94insA | |
| ENST00000699601.1:c.*1289-95_*1289-94insA | ENSP00000514470.1:n.*1289-95_*1289-94insA | |
| ENST00000699602.1:c.2989-95_2989-94insA | ENSP00000514471.1:n.2989-95_2989-94insA | |
| ENST00000699604.1:c.*2813-95_*2813-94insA | ENSP00000514472.1:n.*2813-95_*2813-94insA | |
| ENST00000699605.1:c.2563-95_2563-94insA | ENSP00000514473.1:n.2563-95_2563-94insA | |
| ENST00000687278.1:c.580-95_580-94insA | ENSP00000509593.1:n.580-95_580-94insA | |
| ENST00000003084.11:c.2989-95_2989-94insA MANE Select | ENSP00000003084.6:n.2989-95_2989-94insA | |
| ENST00000647720.1:c.639-95_639-94insA | ||
| ENST00000648260.1:c.1771-95_1771-94insA | ENSP00000497957.1:n.1771-95_1771-94insA | |
| ENST00000649406.1:c.2806-95_2806-94insA | ENSP00000497965.1:n.2806-95_2806-94insA | |
| ENST00000649781.1:c.2806-95_2806-94insA | ENSP00000497203.1:n.2806-95_2806-94insA | |
| ENST00000003084.10:c.2989-95_2989-94insA | ENSP00000003084.6:n.2989-95_2989-94insA | |
| ENST00000426809.5:c.2899-95_2899-94insA | ENSP00000389119.1:n.2899-95_2899-94insA | |
| NM_000492.3:c.2989-95_2989-94insA , LRG_663t1:c.2989-95_2989-94insA | NP_000483.3:n.2989-95_2989-94insA | |
| XM_011515751.1:c.3079-95_3079-94insA | XP_011514053.1:n.3079-95_3079-94insA | |
| XM_011515752.1:c.3079-95_3079-94insA | XP_011514054.1:n.3079-95_3079-94insA | |
| XM_011515753.1:c.2746-95_2746-94insA | XP_011514055.1:n.2746-95_2746-94insA | |
| XM_011515754.1:c.2746-95_2746-94insA | XP_011514056.1:n.2746-95_2746-94insA | |
| NM_000492.4:c.2989-95_2989-94insA MANE Select | NP_000483.3:n.2989-95_2989-94insA |