Linked Data
ClinVar Variation Id:
755048
ClinVar RCV Id:
RCV001426610
dbSNP Id:
rs1428795908
gnomAD v3:
X-49251773-TTGGGGGG-T
gnomAD v4:
X-49251773-TTGGGGGG-T
MyVariant Identifiers:
chrX:g.49251774_49251780del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.49251779_49251785del , CM000685.2:g.49251779_49251785del | GRCh38 |
| NC_000023.10:g.49108240_49108246del , CM000685.1:g.49108240_49108246del | GRCh37 |
| NC_000023.9:g.48995184_48995190del | NCBI36 |
| NG_007392.1:g.18048_18054del , LRG_62:g.18048_18054del | |
| NG_021311.2:g.21315_21321del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376199.7:c.940-15_940-9del | ENSP00000365372.2:n.940-15_940-9del | |
| ENST00000376207.10:c.1045-15_1045-9del MANE Select | ENSP00000365380.4:n.1045-15_1045-9del | |
| ENST00000455775.7:c.1114-15_1114-9del | ENSP00000396415.3:n.1114-15_1114-9del | |
| ENST00000518685.6:c.964-15_964-9del | ENSP00000428952.2:n.964-15_964-9del | |
| ENST00000557224.6:c.940-15_940-9del | ENSP00000451208.1:n.940-15_940-9del | |
| ENST00000651307.1:c.968-15_968-9del | ENSP00000498454.1:n.968-15_968-9del | |
| ENST00000376197.1:c.895-15_895-9del | ENSP00000365369.1:n.895-15_895-9del | |
| ENST00000376199.6:c.940-15_940-9del | ENSP00000365372.2:n.940-15_940-9del | |
| ENST00000376207.8:c.1045-15_1045-9del | ENSP00000365380.4:n.1045-15_1045-9del | |
| ENST00000455775.6:c.1114-15_1114-9del | ENSP00000396415.3:n.1114-15_1114-9del | |
| ENST00000518685.5:c.940-15_940-9del | ENSP00000428952.1:n.940-15_940-9del | |
| ENST00000557224.5:c.940-15_940-9del | ENSP00000451208.1:n.940-15_940-9del | |
| NM_001114377.1:c.940-15_940-9del | NP_001107849.1:n.940-15_940-9del | |
| NM_014009.3:c.1045-15_1045-9del , LRG_62t1:c.1045-15_1045-9del | NP_054728.2:n.1045-15_1045-9del | |
| XM_006724533.2:c.1114-15_1114-9del | XP_006724596.2:n.1114-15_1114-9del | |
| XM_011543915.1:c.1264-15_1264-9del | XP_011542217.1:n.1264-15_1264-9del | |
| XM_011543916.1:c.1264-15_1264-9del | XP_011542218.1:n.1264-15_1264-9del | |
| XM_011543917.1:c.1063-15_1063-9del | XP_011542219.1:n.1063-15_1063-9del | |
| XM_011543918.1:c.1300-15_1300-9del | XP_011542220.1:n.1300-15_1300-9del | |
| XM_011543919.1:c.1264-15_1264-9del | XP_011542221.1:n.1264-15_1264-9del | |
| XM_017029567.1:c.991-15_991-9del | XP_016885056.1:n.991-15_991-9del | |
| NM_001114377.2:c.940-15_940-9del | NP_001107849.1:n.940-15_940-9del | |
| NM_014009.4:c.1045-15_1045-9del MANE Select | NP_054728.2:n.1045-15_1045-9del |