ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.3076905_3076907delinsCTC , CM000668.2:g.3076905_3076907delinsCTC | GRCh38 |
| NC_000006.11:g.3077139_3077141delinsCTC , CM000668.1:g.3077139_3077141delinsCTC | GRCh37 |
| NC_000006.10:g.3022138_3022140delinsCTC | NCBI36 |
| NG_063914.1:g.18065_18067delinsCTC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259808.9:c.82_84delinsCTC MANE Select | ENSP00000259808.3:p.Phe28Leu | |
| ENST00000380409.3:c.82_84delinsCTC | ENSP00000369773.3:p.Phe28Leu | |
| ENST00000676591.1:c.82_84delinsCTC | ENSP00000504592.1:p.Phe28Leu | |
| ENST00000676618.1:c.82_84delinsCTC | ENSP00000503154.1:p.Phe28Leu | |
| ENST00000676758.1:n.296_298delinsCTC | ||
| ENST00000676965.1:c.82_84delinsCTC | ENSP00000503708.1:p.Phe28Leu | |
| ENST00000676995.1:n.235_237delinsCTC | ||
| ENST00000677261.1:n.198-6180_198-6178delinsCTC | ||
| ENST00000677361.1:c.82_84delinsCTC | ENSP00000504823.1:p.Phe28Leu | |
| ENST00000677799.1:c.82_84delinsCTC | ENSP00000502975.1:p.Phe28Leu | |
| ENST00000678084.1:n.304_306delinsCTC | ||
| ENST00000678809.1:c.82_84delinsCTC | ENSP00000503978.1:p.Phe28Leu | |
| ENST00000678874.1:c.82_84delinsCTC | ENSP00000503002.1:p.Phe28Leu | |
| ENST00000679118.1:c.82_84delinsCTC | ENSP00000504232.1:p.Phe28Leu | |
| ENST00000259808.8:c.82_84delinsCTC | ENSP00000259808.3:p.Phe28Leu | |
| ENST00000380409.2:c.82_84delinsCTC | ENSP00000369773.2:p.Phe28Leu | |
| ENST00000479389.1:n.70-874_70-872delinsCTC | ||
| NM_001317061.1:c.-522_-520delinsCTC | NP_001303990.1:n.-522_-520delinsCTC | |
| NM_003804.3:c.82_84delinsCTC | NP_003795.2:p.Phe28Leu | |
| NM_003804.4:c.82_84delinsCTC | NP_003795.2:p.Phe28Leu | |
| XM_005249457.3:c.82_84delinsCTC | XP_005249514.2:p.Phe28Leu | |
| XM_006715237.2:c.82_84delinsCTC | XP_006715300.2:p.Phe28Leu | |
| XM_011514969.1:c.82_84delinsCTC | XP_011513271.1:p.Phe28Leu | |
| NM_001317061.2:c.-522_-520delinsCTC | NP_001303990.1:n.-522_-520delinsCTC | |
| NM_001354930.1:c.82_84delinsCTC | NP_001341859.1:p.Phe28Leu | |
| NM_001354931.1:c.82_84delinsCTC | NP_001341860.1:p.Phe28Leu | |
| NM_001354932.1:c.-522_-520delinsCTC | NP_001341861.1:n.-522_-520delinsCTC | |
| NM_001354933.1:c.-522_-520delinsCTC | NP_001341862.1:n.-522_-520delinsCTC | |
| NM_001354934.1:c.-522_-520delinsCTC | NP_001341863.1:n.-522_-520delinsCTC | |
| NM_003804.5:c.82_84delinsCTC | NP_003795.2:p.Phe28Leu | |
| XM_006715237.3:c.82_84delinsCTC | XP_006715300.2:p.Phe28Leu | |
| XM_017011405.1:c.82_84delinsCTC | XP_016866894.1:p.Phe28Leu | |
| NM_001354930.2:c.82_84delinsCTC MANE Select | NP_001341859.1:p.Phe28Leu | |
| NM_001317061.3:c.-522_-520delinsCTC | NP_001303990.1:n.-522_-520delinsCTC | |
| NM_001354931.2:c.82_84delinsCTC | NP_001341860.1:p.Phe28Leu | |
| NM_001354932.2:c.-522_-520delinsCTC | NP_001341861.1:n.-522_-520delinsCTC | |
| NM_001354933.2:c.-522_-520delinsCTC | NP_001341862.1:n.-522_-520delinsCTC | |
| NM_001354934.2:c.-522_-520delinsCTC | NP_001341863.1:n.-522_-520delinsCTC | |
| NM_003804.6:c.82_84delinsCTC | NP_003795.2:p.Phe28Leu |