ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26444261_26444262delinsTG , CM000664.2:g.26444261_26444262delinsTG | GRCh38 |
| NC_000002.11:g.26667129_26667130delinsTG , CM000664.1:g.26667129_26667130delinsTG | GRCh37 |
| NC_000002.10:g.26520633_26520634delinsTG | NCBI36 |
| NG_042824.1:g.47350_47351delinsTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000288710.7:c.1068_1069delinsTG MANE Select | ENSP00000288710.2:p.Lys357Glu | |
| ENST00000649059.1:c.914_915delinsTG | ||
| ENST00000288710.6:c.1068_1069delinsTG | ENSP00000288710.2:p.Lys357Glu | |
| ENST00000421869.5:c.*381_*382delinsTG | ENSP00000414375.1:n.*381_*382delinsTG | |
| ENST00000483675.1:n.669_670delinsTG | ||
| NM_145038.3:c.1068_1069delinsTG | NP_659475.2:p.Lys357Glu | |
| NM_145038.4:c.1068_1069delinsTG | NP_659475.2:p.Lys357Glu | |
| XM_005264637.3:c.450_451delinsTG | XP_005264694.1:p.Lys151Glu | |
| XM_005264638.3:c.48_49delinsTG | XP_005264695.1:p.Lys17Glu | |
| XM_017005271.1:c.48_49delinsTG | XP_016860760.1:p.Lys17Glu | |
| XM_024453218.1:c.48_49delinsTG | XP_024308986.1:p.Lys17Glu | |
| NM_145038.5:c.1068_1069delinsTG MANE Select | NP_659475.2:p.Lys357Glu |