ClinVar Variation:
dbSNP:
MyVariant.info:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47438816_47438817dup , CM000673.2:g.47438816_47438817dup | GRCh38 |
| NC_000011.9:g.47460367_47460368dup , CM000673.1:g.47460367_47460368dup | GRCh37 |
| NC_000011.8:g.47416943_47416944dup | NCBI36 |
| NG_008312.1:g.15365_15366dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298854.7:c.1083_1084dup MANE Select | ENSP00000298854.2:p.Tyr362SerfsTer10 | |
| ENST00000298854.6:c.1083_1084dup | ENSP00000298854.2:p.Tyr362SerfsTer10 | |
| ENST00000352508.7:c.906_907dup | ENSP00000298853.3:p.Tyr303SerfsTer10 | |
| ENST00000524487.5:c.924_925dup | ENSP00000435551.2:p.Tyr309SerfsTer10 | |
| ENST00000528356.1:n.122-768_122-767dup | ||
| ENST00000529341.1:c.906_907dup | ENSP00000431732.1:p.Tyr303SerfsTer10 | |
| NM_005055.4:c.1083_1084dup | NP_005046.2:p.Tyr362SerfsTer10 | |
| NM_032645.4:c.906_907dup | NP_116034.2:p.Tyr303SerfsTer10 | |
| XM_005253042.2:c.1029_1030dup | XP_005253099.1:p.Tyr344SerfsTer10 | |
| XM_005253043.2:c.960_961dup | XP_005253100.1:p.Tyr321SerfsTer10 | |
| XM_011520252.1:c.1168_1169dup | XP_011518554.1:p.Leu391TyrfsTer? | |
| XM_011520253.1:c.1107_1108dup | XP_011518555.1:p.Tyr370SerfsTer10 | |
| XM_005253042.3:c.1029_1030dup | XP_005253099.1:p.Tyr344SerfsTer10 | |
| XM_005253043.3:c.960_961dup | XP_005253100.1:p.Tyr321SerfsTer10 | |
| NM_005055.5:c.1083_1084dup MANE Select | NP_005046.2:p.Tyr362SerfsTer10 | |
| NM_032645.5:c.906_907dup | NP_116034.2:p.Tyr303SerfsTer10 |