Linked Data
dbSNP Id:
rs1555969475
MyVariant Identifiers:
chrX:g.66765158_66765159insAGCAGCAGC (hg19)
chrX:g.67545316_67545317insAGCAGCAGC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.67545316_67545317insAGCAGCAGC , CM000685.2:g.67545316_67545317insAGCAGCAGC | GRCh38 |
| NC_000023.10:g.66765158_66765159insAGCAGCAGC , CM000685.1:g.66765158_66765159insAGCAGCAGC | GRCh37 |
| NC_000023.9:g.66681883_66681884insAGCAGCAGC | NCBI36 |
| NG_009014.2:g.6285_6286insAGCAGCAGC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396043.4:c.170_171insAGCAGCAGC | ENSP00000379358.4:p.Leu57_Gln58insAlaAlaAla | |
| ENST00000374690.9:c.170_171insAGCAGCAGC MANE Select | ENSP00000363822.3:p.Leu57_Gln58insAlaAlaAla | |
| ENST00000396044.8:c.170_171insAGCAGCAGC | ENSP00000379359.3:p.Leu57_Gln58insAlaAlaAla | |
| ENST00000612452.5:c.170_171insAGCAGCAGC | ENSP00000484033.2:p.Leu57_Gln58insAlaAlaAla | |
| ENST00000374690.7:c.170_171insAGCAGCAGC | ENSP00000363822.3:p.Leu57_Gln58insAlaAlaAla | |
| ENST00000396044.7:c.170_171insAGCAGCAGC | ENSP00000379359.3:p.Leu57_Gln58insAlaAlaAla | |
| ENST00000504326.5:c.170_171insAGCAGCAGC | ENSP00000421155.1:p.Leu57_Gln58insAlaAlaAla | |
| ENST00000513847.5:n.497_498insAGCAGCAGC | ||
| ENST00000514029.5:c.170_171insAGCAGCAGC | ENSP00000425199.1:p.Leu57_Gln58insAlaAlaAla | |
| ENST00000612010.4:c.170_171insAGCAGCAGC | ENSP00000482407.1:p.Leu57_Gln58insAlaAlaAla | |
| ENST00000612452.4:c.-401_-400insAGCAGCAGC | ENSP00000484033.1:n.-401_-400insAGCAGCAGC | |
| ENST00000613054.2:c.170_171insAGCAGCAGC | ENSP00000479013.1:p.Leu57_Gln58insAlaAlaAla | |
| NM_000044.3:c.170_171insAGCAGCAGC | NP_000035.2:p.Leu57_Gln58insAlaAlaAla | |
| NM_000044.4:c.170_171insAGCAGCAGC | NP_000035.2:p.Leu57_Gln58insAlaAlaAla | |
| NM_001011645.3:c.-1614_-1613insAGCAGCAGC | NP_001011645.1:n.-1614_-1613insAGCAGCAGC | |
| NM_001348061.1:c.170_171insAGCAGCAGC | NP_001334990.1:p.Leu57_Gln58insAlaAlaAla | |
| NM_001348063.1:c.170_171insAGCAGCAGC | NP_001334992.1:p.Leu57_Gln58insAlaAlaAla | |
| NM_001348064.1:c.170_171insAGCAGCAGC | NP_001334993.1:p.Leu57_Gln58insAlaAlaAla | |
| NM_000044.6:c.170_171insAGCAGCAGC MANE Select | NP_000035.2:p.Leu57_Gln58insAlaAlaAla |