Linked Data
ClinVar Variation Id:
93761
dbSNP Id:
rs398123620
MyVariant Identifiers:
chrX:g.153587378_153587379insAT (hg19)
chrX:g.154359010_154359011insAT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154359011_154359012dup , CM000685.2:g.154359011_154359012dup | GRCh38 |
| NC_000023.10:g.153587379_153587380dup , CM000685.1:g.153587379_153587380dup | GRCh37 |
| NC_000023.9:g.153240573_153240574dup | NCBI36 |
| NG_011506.1:g.20627_20628dup | |
| NG_011506.2:g.20627_20628dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000360319.9:c.4446_4447dup | ENSP00000353467.4:p.Leu1483TyrfsTer19 | |
| ENST00000369850.10:c.4446_4447dup MANE Select | ENSP00000358866.3:p.Leu1483TyrfsTer19 | |
| ENST00000369856.8:c.4365_4366dup | ENSP00000358872.4:p.Leu1456TyrfsTer19 | |
| ENST00000422373.6:c.3160+2343_3160+2344dup | ENSP00000416926.2:n.3160+2343_3160+2344du... | |
| ENST00000610817.5:c.4503_4504dup | ENSP00000480593.2:n.4503_4504dup | |
| ENST00000673639.2:c.279+6424_279+6425dup | ||
| ENST00000676696.1:c.4725_4726dup | ENSP00000503392.1:n.4725_4726dup | |
| ENST00000678304.1:n.148+77_148+78dup | ||
| ENST00000344736.8:c.4446_4447dup | ENSP00000358863.3:p.Leu1483TyrfsTer19 | |
| ENST00000360319.8:c.4446_4447dup | ENSP00000353467.4:p.Leu1483TyrfsTer19 | |
| ENST00000369850.7:c.4446_4447dup | ENSP00000358866.3:p.Leu1483TyrfsTer19 | |
| ENST00000369856.7:c.4365_4366dup | ENSP00000358872.4:p.Leu1456TyrfsTer19 | |
| ENST00000420627.5:c.4402_4403dup | ENSP00000408921.1:n.4402_4403dup | |
| ENST00000422373.5:c.4446_4447dup | ENSP00000416926.1:p.Leu1483TyrfsTer19 | |
| ENST00000490936.5:n.459_460dup | ||
| ENST00000610817.4:c.4365_4366dup | ENSP00000480593.1:p.Leu1456TyrfsTer19 | |
| NM_001110556.1:c.4446_4447dup | NP_001104026.1:p.Leu1483TyrfsTer19 | |
| NM_001456.3:c.4446_4447dup | NP_001447.2:p.Leu1483TyrfsTer19 | |
| XM_011531127.1:c.4446_4447dup | XP_011529429.1:p.Leu1483TyrfsTer19 | |
| XM_011531128.1:c.4446_4447dup | XP_011529430.1:p.Leu1483TyrfsTer19 | |
| XM_011531129.1:c.4446_4447dup | XP_011529431.1:p.Leu1483TyrfsTer19 | |
| XM_011531130.1:c.4446_4447dup | XP_011529432.1:p.Leu1483TyrfsTer19 | |
| XM_011531131.1:c.4245_4246dup | XP_011529433.1:p.Leu1416TyrfsTer19 | |
| NM_001110556.2:c.4446_4447dup MANE Select | NP_001104026.1:p.Leu1483TyrfsTer19 | |
| NM_001456.4:c.4446_4447dup | NP_001447.2:p.Leu1483TyrfsTer19 |