Linked Data
ClinVar Variation Id:
794427
ClinVar RCV Id:
RCV001443639
dbSNP Id:
rs1396199299
gnomAD v2:
5-125880719-G-GA
gnomAD v3:
5-126545027-G-GA
gnomAD v4:
5-126545027-G-GA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.126545033dup , CM000667.2:g.126545033dup | GRCh38 |
| NC_000005.9:g.125880725dup , CM000667.1:g.125880725dup | GRCh37 |
| NC_000005.8:g.125908624dup | NCBI36 |
| NG_008600.2:g.55363dup | |
| NG_008600.3:g.55363dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409134.8:c.1566-9dup MANE Select | ENSP00000387123.3:n.1566-9dup | |
| ENST00000458249.6:c.*1475-9dup | ENSP00000403929.1:n.*1475-9dup | |
| ENST00000485852.7:n.313-9dup | ||
| ENST00000497231.7:n.1993-9dup | ||
| ENST00000635851.1:c.1563+1296dup | ||
| ENST00000636286.1:n.1331-9dup | ||
| ENST00000636482.1:n.1100-9dup | ||
| ENST00000636743.1:c.1446-9dup | ENSP00000489725.1:n.1446-9dup | |
| ENST00000636808.1:c.*1375-9dup | ENSP00000490833.1:n.*1375-9dup | |
| ENST00000636872.1:c.1726-9dup | ENSP00000490919.1:n.1726-9dup | |
| ENST00000636879.1:c.1611-9dup | ENSP00000490811.1:n.1611-9dup | |
| ENST00000636886.1:c.1365-9dup | ENSP00000490371.1:n.1365-9dup | |
| ENST00000637206.1:c.1386-9dup | ENSP00000489895.1:n.1386-9dup | |
| ENST00000637272.1:c.1557-9dup | ENSP00000489686.1:n.1557-9dup | |
| ENST00000637292.1:c.1022-9dup | ||
| ENST00000637782.1:c.1565+1296dup | ENSP00000490024.1:n.1565+1296dup | |
| ENST00000638008.1:c.*1410-9dup | ENSP00000490400.1:n.*1410-9dup | |
| ENST00000638010.1:n.1512-9dup | ||
| ENST00000409134.7:c.1566-9dup | ENSP00000387123.3:n.1566-9dup | |
| ENST00000447989.6:c.1455-9dup | ENSP00000414132.2:n.1455-9dup | |
| ENST00000485852.6:n.313-9dup | ||
| ENST00000497231.6:n.1776-9dup | ||
| ENST00000553117.5:c.1374-9dup | ENSP00000448593.1:n.1374-9dup | |
| NM_001182.4:c.1566-9dup | NP_001173.2:n.1566-9dup | |
| NM_001201377.1:c.1482-9dup | NP_001188306.1:n.1482-9dup | |
| NM_001202404.1:c.1455-9dup | NP_001189333.1:n.1455-9dup | |
| XM_011543417.1:c.1161-9dup | XP_011541719.1:n.1161-9dup | |
| XM_011543417.2:c.1161-9dup | XP_011541719.1:n.1161-9dup | |
| NM_001182.5:c.1566-9dup MANE Select | NP_001173.2:n.1566-9dup | |
| NM_001201377.2:c.1482-9dup | NP_001188306.1:n.1482-9dup | |
| NM_001202404.2:c.1374-9dup | NP_001189333.2:n.1374-9dup |