Linked Data
dbSNP Id:
rs1556673715
gnomAD v2:
X-115303817-C-CTACT
gnomAD v4:
X-116172564-C-CTACT
MyVariant Identifiers:
chrX:g.115303817_115303818insTACT (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.116172565_116172568dup , CM000685.2:g.116172565_116172568dup | GRCh38 |
| NC_000023.10:g.115303818_115303821dup , CM000685.1:g.115303818_115303821dup | GRCh37 |
| NC_000023.9:g.115217846_115217849dup | NCBI36 |
| NG_016326.1:g.6861_6864dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371906.5:c.285_288dup MANE Select | ENSP00000360973.4:p.Leu97TyrfsTer12 | |
| ENST00000680409.1:n.753_756dup | ||
| ENST00000681852.1:c.285_288dup | ENSP00000505750.1:p.Leu97TyrfsTer12 | |
| ENST00000371906.4:c.285_288dup | ENSP00000360973.4:p.Leu97TyrfsTer12 | |
| NM_000686.4:c.285_288dup | NP_000677.2:p.Leu97TyrfsTer12 | |
| XM_011537533.1:c.285_288dup | XP_011535835.1:p.Leu97TyrfsTer12 | |
| NM_000686.5:c.285_288dup MANE Select | NP_000677.2:p.Leu97TyrfsTer12 | |
| NM_001385624.1:c.285_288dup | NP_001372553.1:p.Leu97TyrfsTer12 |