Linked Data
ClinVar Variation Id:
93321
dbSNP Id:
rs281860677
gnomAD v3:
11-6391904-A-ACATCCCCG
gnomAD v4:
11-6391904-A-ACATCCCCG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6391907_6391914dup , CM000673.2:g.6391907_6391914dup | GRCh38 |
| NC_000011.9:g.6413137_6413144dup , CM000673.1:g.6413137_6413144dup | GRCh37 |
| NC_000011.8:g.6369713_6369720dup | NCBI36 |
| NG_011780.1:g.6483_6490dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000342245.9:c.842_849dup MANE Select | ENSP00000340409.4:p.His284SerfsTer18 | |
| ENST00000342245.8:c.842_849dup | ENSP00000340409.4:p.His284SerfsTer18 | |
| ENST00000526280.1:c.31_38dup | ||
| ENST00000527275.5:c.839_846dup | ENSP00000435350.1:p.His283SerfsTer18 | |
| ENST00000530395.1:c.23_30dup | ENSP00000431479.1:p.His11SerfsTer18 | |
| ENST00000531303.5:c.438+404_438+411dup | ENSP00000432625.1:n.438+404_438+411dup | |
| ENST00000533123.5:c.842_849dup | ENSP00000435950.1:p.His284SerfsTer18 | |
| ENST00000533196.1:n.375-99_375-92dup | ||
| ENST00000534405.5:c.842_849dup | ENSP00000434353.1:p.His284SerfsTer18 | |
| NM_000543.4:c.842_849dup | NP_000534.3:p.His284SerfsTer18 | |
| NM_001007593.2:c.839_846dup | NP_001007594.2:p.His283SerfsTer18 | |
| XM_005253075.3:c.842_849dup | XP_005253132.1:p.His284SerfsTer18 | |
| XM_011520303.1:c.842_849dup | XP_011518605.1:p.His284SerfsTer18 | |
| XM_011520304.1:c.842_849dup | XP_011518606.1:p.His284SerfsTer18 | |
| XR_930886.1:n.1140_1147dup | ||
| NM_001318087.1:c.842_849dup | NP_001305016.1:p.His284SerfsTer18 | |
| NM_001318088.1:c.-120_-113dup | NP_001305017.1:n.-120_-113dup | |
| NM_001365135.1:c.842_849dup | NP_001352064.1:p.His284SerfsTer18 | |
| NR_027400.2:n.1027_1034dup | ||
| NR_134502.1:n.623+404_623+411dup | ||
| XM_011520304.2:c.842_849dup | XP_011518606.1:p.His284SerfsTer18 | |
| XR_001747940.2:n.967_974dup | ||
| XR_002957158.1:n.967_974dup | ||
| NM_000543.5:c.842_849dup MANE Select | NP_000534.3:p.His284SerfsTer18 | |
| NM_001007593.3:c.839_846dup | NP_001007594.2:p.His283SerfsTer18 | |
| NM_001318087.2:c.842_849dup | NP_001305016.1:p.His284SerfsTer18 | |
| NM_001318088.2:c.-120_-113dup | NP_001305017.1:n.-120_-113dup | |
| NM_001365135.2:c.842_849dup | NP_001352064.1:p.His284SerfsTer18 | |
| NR_027400.3:n.967_974dup | ||
| NR_134502.2:n.563+404_563+411dup |