Linked Data
ClinVar Variation Id:
280077
dbSNP Id:
rs886041364
MyVariant Identifiers:
chrX:g.22239740_22239743dupTGAT (hg19)
chrX:g.22221623_22221626dupTGAT (hg38)
PubMed:
PMID:9199930
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.22221623_22221626dup , CM000685.2:g.22221623_22221626dup | GRCh38 |
| NC_000023.10:g.22239740_22239743dup , CM000685.1:g.22239740_22239743dup | GRCh37 |
| NC_000023.9:g.22149661_22149664dup | NCBI36 |
| NG_007563.2:g.193820_193823dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682888.1:c.333_336dup (PHEX) | ENSP00000508003.1:p.Lys113Ter | |
| ENST00000683162.1:c.333_336dup (PHEX) | ENSP00000508059.1:p.Lys113Ter | |
| ENST00000683289.1:c.333_336dup (PHEX) | ENSP00000508195.1:p.Lys113Ter | |
| ENST00000683917.1:n.563_566dup (PHEX) | ||
| ENST00000684356.1:c.333_336dup (PHEX) | ENSP00000507619.1:p.Lys113Ter | |
| ENST00000684745.1:n.1453_1456dup (PHEX) | ||
| ENST00000379374.5:c.1779_1782dup (PHEX) MANE Select | ENSP00000368682.4:p.Lys595Ter | |
| ENST00000379374.4:c.1779_1782dup (PHEX) | ENSP00000368682.4:p.Lys595Ter | |
| NM_000444.5:c.1779_1782dup (PHEX) | NP_000435.3:p.Lys595Ter | |
| NM_001282754.1:c.1779_1782dup (PHEX) | NP_001269683.1:p.Lys595Ter | |
| XM_011545533.1:c.1023_1026dup (PHEX) | XP_011543835.1:p.Lys343Ter | |
| XM_011545534.1:c.1023_1026dup (PHEX) | XP_011543836.1:p.Lys343Ter | |
| XM_011545536.1:c.672_675dup (PHEX) | XP_011543838.1:p.Lys226Ter | |
| NR_073010.2:n.1048+5844_1048+5847dup (PTCHD1-AS) | ||
| XM_011545536.2:c.672_675dup (PHEX) | XP_011543838.1:p.Lys226Ter | |
| XM_017029579.1:c.1023_1026dup (PHEX) | XP_016885068.1:p.Lys343Ter | |
| XM_024452390.1:c.1488_1491dup (PHEX) | XP_024308158.1:p.Lys498Ter | |
| XR_001755695.1:n.2619_2622dup (PHEX) | ||
| NM_000444.6:c.1779_1782dup (PHEX) MANE Select | NP_000435.3:p.Lys595Ter | |
| NM_001282754.2:c.1779_1782dup (PHEX) | NP_001269683.1:p.Lys595Ter |