Linked Data
dbSNP Id:
rs35853889
gnomAD v2:
17-44104612-T-TG
gnomAD v3:
17-46027246-T-TG
gnomAD v4:
17-46027246-T-TG
COSMIC:
COSN20114037
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.46027250dup , CM000679.2:g.46027250dup | GRCh38 |
| NC_000017.10:g.44104616dup , CM000679.1:g.44104616dup | GRCh37 |
| NC_000017.9:g.41460463dup | NCBI36 |
| NG_007398.1:g.137840dup | |
| NG_007398.2:g.137788dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000262410.10:c.*3079dup MANE Select | ENSP00000262410.6:n.*3079dup | |
| ENST00000351559.10:c.*3079dup | ENSP00000303214.7:n.*3079dup | |
| ENST00000262410.9:c.*3079dup | ENSP00000262410.5:n.*3079dup | |
| ENST00000340799.9:c.*3079dup | ENSP00000340438.5:n.*3079dup | |
| ENST00000344290.9:c.*3079dup | ENSP00000340820.5:n.*3079dup | |
| ENST00000351559.9:c.*3079dup | ENSP00000303214.7:n.*3079dup | |
| ENST00000446361.7:c.*3079dup | ENSP00000408975.3:n.*3079dup | |
| ENST00000535772.5:c.*3079dup | ENSP00000443028.1:n.*3079dup | |
| NM_001123066.3:c.*3079dup | NP_001116538.2:n.*3079dup | |
| NM_001123067.3:c.*3079dup | NP_001116539.1:n.*3079dup | |
| NM_001203251.1:c.*3079dup | NP_001190180.1:n.*3079dup | |
| NM_001203252.1:c.*3079dup | NP_001190181.1:n.*3079dup | |
| NM_005910.5:c.*3079dup | NP_005901.2:n.*3079dup | |
| NM_016834.4:c.*3079dup | NP_058518.1:n.*3079dup | |
| NM_016835.4:c.*3079dup | NP_058519.3:n.*3079dup | |
| NM_016841.4:c.*3079dup | NP_058525.1:n.*3079dup | |
| XM_005257362.4:c.*3079dup | XP_005257419.1:n.*3079dup | |
| XM_005257364.4:c.*3079dup | XP_005257421.1:n.*3079dup | |
| XM_005257365.4:c.*3079dup | XP_005257422.1:n.*3079dup | |
| XM_005257366.3:c.*3079dup | XP_005257423.1:n.*3079dup | |
| XM_005257367.4:c.*3079dup | XP_005257424.1:n.*3079dup | |
| XM_005257368.4:c.*3079dup | XP_005257425.1:n.*3079dup | |
| XM_005257369.4:c.*3079dup | XP_005257426.1:n.*3079dup | |
| XM_005257370.4:c.*3079dup | XP_005257427.1:n.*3079dup | |
| XM_005257371.4:c.*3079dup | XP_005257428.1:n.*3079dup | |
| NM_001203251.2:c.*3079dup | NP_001190180.1:n.*3079dup | |
| NM_001377265.1:c.*3079dup MANE Select | NP_001364194.1:n.*3079dup | |
| NM_001377266.1:c.*3079dup | NP_001364195.1:n.*3079dup | |
| NM_001377267.1:c.*2062dup | NP_001364196.1:n.*2062dup | |
| NM_001377268.1:c.*3079dup | NP_001364197.1:n.*3079dup | |
| NM_016834.5:c.*3079dup | NP_058518.1:n.*3079dup | |
| NM_016841.5:c.*3079dup | NP_058525.1:n.*3079dup | |
| NR_165166.1:n.4236dup | ||
| NM_001123066.4:c.*3079dup | NP_001116538.2:n.*3079dup | |
| NM_001123067.4:c.*3079dup | NP_001116539.1:n.*3079dup | |
| NM_001203252.2:c.*3079dup | NP_001190181.1:n.*3079dup | |
| NM_005910.6:c.*3079dup | NP_005901.2:n.*3079dup | |
| NM_016835.5:c.*3079dup | NP_058519.3:n.*3079dup |