Linked Data
dbSNP Id:
rs762238060
MyVariant Identifiers:
chrX:g.66765195_66765196insCAGCAGCAA (hg19)
chrX:g.67545353_67545354insCAGCAGCAA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.67545361_67545362insACAGCAGCA , CM000685.2:g.67545361_67545362insACAGCAGCA | GRCh38 |
| NC_000023.10:g.66765203_66765204insACAGCAGCA , CM000685.1:g.66765203_66765204insACAGCAGCA | GRCh37 |
| NC_000023.9:g.66681928_66681929insACAGCAGCA | NCBI36 |
| NG_009014.2:g.6330_6331insACAGCAGCA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396043.4:c.215_216insACAGCAGCA | ENSP00000379358.4:p.Gln72_Gln73insGlnGlnGln | |
| ENST00000374690.9:c.215_216insACAGCAGCA MANE Select | ENSP00000363822.3:p.Gln72_Gln73insGlnGlnGln | |
| ENST00000396044.8:c.215_216insACAGCAGCA | ENSP00000379359.3:p.Gln72_Gln73insGlnGlnGln | |
| ENST00000612452.5:c.215_216insACAGCAGCA | ENSP00000484033.2:p.Gln72_Gln73insGlnGlnGln | |
| ENST00000374690.7:c.215_216insACAGCAGCA | ENSP00000363822.3:p.Gln72_Gln73insGlnGlnGln | |
| ENST00000396044.7:c.215_216insACAGCAGCA | ENSP00000379359.3:p.Gln72_Gln73insGlnGlnGln | |
| ENST00000504326.5:c.215_216insACAGCAGCA | ENSP00000421155.1:p.Gln72_Gln73insGlnGlnGln | |
| ENST00000513847.5:n.542_543insACAGCAGCA | ||
| ENST00000514029.5:c.215_216insACAGCAGCA | ENSP00000425199.1:p.Gln72_Gln73insGlnGlnGln | |
| ENST00000612010.4:c.215_216insACAGCAGCA | ENSP00000482407.1:p.Gln72_Gln73insGlnGlnGln | |
| ENST00000612452.4:c.-356_-355insACAGCAGCA | ENSP00000484033.1:n.-356_-355insACAGCAGCA | |
| ENST00000613054.2:c.215_216insACAGCAGCA | ENSP00000479013.1:p.Gln72_Gln73insGlnGlnGln | |
| NM_000044.3:c.215_216insACAGCAGCA | NP_000035.2:p.Gln72_Gln73insGlnGlnGln | |
| NM_000044.4:c.215_216insACAGCAGCA | NP_000035.2:p.Gln72_Gln73insGlnGlnGln | |
| NM_001011645.3:c.-1569_-1568insACAGCAGCA | NP_001011645.1:n.-1569_-1568insACAGCAGCA | |
| NM_001348061.1:c.215_216insACAGCAGCA | NP_001334990.1:p.Gln72_Gln73insGlnGlnGln | |
| NM_001348063.1:c.215_216insACAGCAGCA | NP_001334992.1:p.Gln72_Gln73insGlnGlnGln | |
| NM_001348064.1:c.215_216insACAGCAGCA | NP_001334993.1:p.Gln72_Gln73insGlnGlnGln | |
| NM_000044.6:c.215_216insACAGCAGCA MANE Select | NP_000035.2:p.Gln72_Gln73insGlnGlnGln |