Linked Data
dbSNP Id:
rs1421745943
gnomAD v3:
X-149487152-CTTGT-C
gnomAD v4:
X-149487152-CTTGT-C
MyVariant Identifiers:
chrX:g.149487153_149487156del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.149487155_149487158del , CM000685.2:g.149487155_149487158del | GRCh38 |
| NC_000023.10:g.148568686_148568689del , CM000685.1:g.148568686_148568689del | GRCh37 |
| NC_000023.9:g.148376591_148376594del | NCBI36 |
| NG_011900.3:g.23179_23182del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340855.11:c.1007-58_1007-55del MANE Select | ENSP00000339801.6:n.1007-58_1007-55del | |
| ENST00000651111.1:c.374-58_374-55del | ENSP00000498395.1:n.374-58_374-55del | |
| ENST00000340855.10:c.1007-58_1007-55del | ENSP00000339801.6:n.1007-58_1007-55del | |
| ENST00000370441.8:c.*132_*135del | ENSP00000359470.4:n.*132_*135del | |
| ENST00000422081.6:c.374-58_374-55del | ENSP00000477056.1:n.374-58_374-55del | |
| ENST00000441880.1:n.114-58_114-55del | ||
| ENST00000466323.5:c.*355_*358del | ENSP00000418264.1:n.*355_*358del | |
| NM_000202.6:c.1007-58_1007-55del | NP_000193.1:n.1007-58_1007-55del | |
| NM_001166550.2:c.737-58_737-55del | NP_001160022.1:n.737-58_737-55del | |
| NM_006123.4:c.*132_*135del | NP_006114.1:n.*132_*135del | |
| NR_104128.1:n.1511_1514del | ||
| NM_000202.7:c.1007-58_1007-55del | NP_000193.1:n.1007-58_1007-55del | |
| NM_001166550.3:c.737-58_737-55del | NP_001160022.1:n.737-58_737-55del | |
| NM_000202.8:c.1007-58_1007-55del MANE Select | NP_000193.1:n.1007-58_1007-55del | |
| NM_001166550.4:c.737-58_737-55del | NP_001160022.1:n.737-58_737-55del | |
| NM_006123.5:c.*132_*135del | NP_006114.1:n.*132_*135del | |
| NR_104128.2:n.1463_1466del |