Linked Data
dbSNP Id:
rs945152379
gnomAD v2:
X-22237279-G-GTTAA
gnomAD v3:
X-22219162-G-GTTAA
gnomAD v4:
X-22219162-G-GTTAA
MyVariant Identifiers:
chrX:g.22237279_22237280insTTAA (hg19)
chrX:g.22219162_22219163insTTAA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.22219165_22219168dup , CM000685.2:g.22219165_22219168dup | GRCh38 |
| NC_000023.10:g.22237282_22237285dup , CM000685.1:g.22237282_22237285dup | GRCh37 |
| NC_000023.9:g.22147203_22147206dup | NCBI36 |
| NG_007563.2:g.191362_191365dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682888.1:c.322+62_322+65dup (PHEX) | ENSP00000508003.1:n.322+62_322+65dup | |
| ENST00000683162.1:c.322+62_322+65dup (PHEX) | ENSP00000508059.1:n.322+62_322+65dup | |
| ENST00000683289.1:c.322+62_322+65dup (PHEX) | ENSP00000508195.1:n.322+62_322+65dup | |
| ENST00000683917.1:n.552+62_552+65dup (PHEX) | ||
| ENST00000684356.1:c.322+62_322+65dup (PHEX) | ENSP00000507619.1:n.322+62_322+65dup | |
| ENST00000684745.1:n.1442+62_1442+65dup (PHEX) | ||
| ENST00000379374.5:c.1768+62_1768+65dup (PHEX) MANE Select | ENSP00000368682.4:n.1768+62_1768+65dup | |
| ENST00000379374.4:c.1768+62_1768+65dup (PHEX) | ENSP00000368682.4:n.1768+62_1768+65dup | |
| NM_000444.5:c.1768+62_1768+65dup (PHEX) | NP_000435.3:n.1768+62_1768+65dup | |
| NM_001282754.1:c.1768+62_1768+65dup (PHEX) | NP_001269683.1:n.1768+62_1768+65dup | |
| XM_011545533.1:c.1012+62_1012+65dup (PHEX) | XP_011543835.1:n.1012+62_1012+65dup | |
| XM_011545534.1:c.1012+62_1012+65dup (PHEX) | XP_011543836.1:n.1012+62_1012+65dup | |
| XM_011545536.1:c.661+62_661+65dup (PHEX) | XP_011543838.1:n.661+62_661+65dup | |
| NR_073010.2:n.1048+8304_1048+8307dup (PTCHD1-AS) | ||
| XM_011545536.2:c.661+62_661+65dup (PHEX) | XP_011543838.1:n.661+62_661+65dup | |
| XM_017029579.1:c.1012+62_1012+65dup (PHEX) | XP_016885068.1:n.1012+62_1012+65dup | |
| XM_024452390.1:c.1477+62_1477+65dup (PHEX) | XP_024308158.1:n.1477+62_1477+65dup | |
| XR_001755695.1:n.2608+62_2608+65dup (PHEX) | ||
| NM_000444.6:c.1768+62_1768+65dup (PHEX) MANE Select | NP_000435.3:n.1768+62_1768+65dup | |
| NM_001282754.2:c.1768+62_1768+65dup (PHEX) | NP_001269683.1:n.1768+62_1768+65dup |