Linked Data
dbSNP Id:
rs1295723950
MyVariant Identifiers:
chrX:g.136649108_136649109insCACCAT (hg19)
chrX:g.137566949_137566950insCACCAT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.137566955_137566960dup , CM000685.2:g.137566955_137566960dup | GRCh38 |
| NC_000023.10:g.136649114_136649119dup , CM000685.1:g.136649114_136649119dup | GRCh37 |
| NC_000023.9:g.136476780_136476785dup | NCBI36 |
| NG_008115.1:g.5769_5774dup | |
| NG_008115.2:g.5829_5834dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000287538.10:c.264_269dup MANE Select | ENSP00000287538.5:p.His90_His91insHisHis | |
| ENST00000287538.9:c.264_269dup | ENSP00000287538.5:p.His90_His91insHisHis | |
| ENST00000370606.3:c.264_269dup | ENSP00000359638.3:p.His90_His91insHisHis | |
| NM_003413.3:c.264_269dup | NP_003404.1:p.His90_His91insHisHis | |
| NM_001330661.1:c.264_269dup | NP_001317590.1:p.His90_His91insHisHis | |
| NM_003413.4:c.264_269dup MANE Select | NP_003404.1:p.His90_His91insHisHis |