Linked Data
ClinVar Variation Id:
53841
dbSNP Id:
rs121908808
ExAC:
7:117292905 A / AT
gnomAD v2:
7-117292905-A-AT
gnomAD v3:
7-117652851-A-AT
gnomAD v4:
7-117652851-A-AT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117652857dup , CM000669.2:g.117652857dup | GRCh38 |
| NC_000007.13:g.117292911dup , CM000669.1:g.117292911dup | GRCh37 |
| NC_000007.12:g.117080147dup | NCBI36 |
| NG_016465.4:g.192074dup , LRG_663:g.192074dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647720.2:c.*98dup | ENSP00000497673.2:n.*98dup | |
| ENST00000647978.2:c.*3603dup | ENSP00000497658.1:n.*3603dup | |
| ENST00000649781.2:c.3706dup | ENSP00000497203.1:p.Ser1236PhefsTer5 | |
| ENST00000685018.2:c.*102dup | ENSP00000510194.2:n.*102dup | |
| ENST00000687278.2:c.*542dup | ENSP00000509593.2:n.*542dup | |
| ENST00000699585.1:c.*98dup | ENSP00000514456.1:n.*98dup | |
| ENST00000699598.1:c.3889dup | ENSP00000514467.1:p.Ser1297PhefsTer5 | |
| ENST00000699599.1:c.*102dup | ENSP00000514468.1:n.*102dup | |
| ENST00000699600.1:c.*550dup | ENSP00000514469.1:n.*550dup | |
| ENST00000699601.1:c.*2264dup | ENSP00000514470.1:n.*2264dup | |
| ENST00000699602.1:c.3883dup | ENSP00000514471.1:p.Ser1295PhefsTer5 | |
| ENST00000699604.1:c.*3713dup | ENSP00000514472.1:n.*3713dup | |
| ENST00000699605.1:c.3463dup | ENSP00000514473.1:p.Ser1155PhefsTer5 | |
| ENST00000699606.1:n.2057dup | ||
| ENST00000685018.1:c.753dup | ENSP00000510194.1:n.753dup | |
| ENST00000687278.1:c.1676dup | ENSP00000509593.1:n.1676dup | |
| ENST00000689011.1:c.471dup | ||
| ENST00000003084.11:c.3889dup MANE Select | ENSP00000003084.6:p.Ser1297PhefsTer5 | |
| ENST00000647720.1:c.1339dup | ||
| ENST00000649781.1:c.3706dup | ENSP00000497203.1:p.Ser1236PhefsTer5 | |
| ENST00000003084.10:c.3889dup | ENSP00000003084.6:p.Ser1297PhefsTer5 | |
| ENST00000426809.5:c.3799dup | ENSP00000389119.1:p.Ser1267PhefsTer5 | |
| ENST00000600166.1:c.15dup | ||
| NM_000492.3:c.3889dup , LRG_663t1:c.3889dup | NP_000483.3:p.Ser1297PhefsTer5 | |
| XM_011515751.1:c.3979dup | XP_011514053.1:p.Ser1327PhefsTer5 | |
| XM_011515752.1:c.3979dup | XP_011514054.1:p.Ser1327PhefsTer5 | |
| XM_011515753.1:c.3646dup | XP_011514055.1:p.Ser1216PhefsTer5 | |
| XM_011515754.1:c.3646dup | XP_011514056.1:p.Ser1216PhefsTer5 | |
| NM_000492.4:c.3889dup MANE Select | NP_000483.3:p.Ser1297PhefsTer5 |