Linked Data
gnomAD v2:
X-148572253-C-CTCCTT
gnomAD v3:
X-149490722-C-CTCCTT
gnomAD v4:
X-149490722-C-CTCCTT
MyVariant Identifiers:
chrX:g.148572253_148572254insTCCTT (hg19)
chrX:g.149490722_149490723insTCCTT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.149490724_149490725insCTTTC , CM000685.2:g.149490724_149490725insCTTTC | GRCh38 |
| NC_000023.10:g.148572255_148572256insCTTTC , CM000685.1:g.148572255_148572256insCTTTC | GRCh37 |
| NC_000023.9:g.148380160_148380161insCTTTC | NCBI36 |
| NG_011900.3:g.19612_19613insAAGGA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340855.11:c.880-283_880-282insAAGGA MANE Select | ENSP00000339801.6:n.880-283_880-282insAAGGA | |
| ENST00000651111.1:c.247-283_247-282insAAGGA | ENSP00000498395.1:n.247-283_247-282insAAGGA | |
| ENST00000340855.10:c.880-283_880-282insAAGGA | ENSP00000339801.6:n.880-283_880-282insAAGGA | |
| ENST00000370441.8:c.880-283_880-282insAAGGA | ENSP00000359470.4:n.880-283_880-282insAAGGA | |
| ENST00000422081.6:c.247-283_247-282insAAGGA | ENSP00000477056.1:n.247-283_247-282insAAGGA | |
| ENST00000441880.1:n.114-3625_114-3624insAAGGA | ||
| ENST00000464251.5:c.806-283_806-282insAAGGA | ENSP00000428980.1:n.806-283_806-282insAAGGA | |
| ENST00000466323.5:c.*71-283_*71-282insAAGGA | ENSP00000418264.1:n.*71-283_*71-282insAAGGA | |
| ENST00000490775.5:n.665-283_665-282insAAGGA | ||
| NM_000202.6:c.880-283_880-282insAAGGA | NP_000193.1:n.880-283_880-282insAAGGA | |
| NM_001166550.2:c.610-283_610-282insAAGGA | NP_001160022.1:n.610-283_610-282insAAGGA | |
| NM_006123.4:c.880-283_880-282insAAGGA | NP_006114.1:n.880-283_880-282insAAGGA | |
| NR_104128.1:n.1227-283_1227-282insAAGGA | ||
| NM_000202.7:c.880-283_880-282insAAGGA | NP_000193.1:n.880-283_880-282insAAGGA | |
| NM_001166550.3:c.610-283_610-282insAAGGA | NP_001160022.1:n.610-283_610-282insAAGGA | |
| NM_000202.8:c.880-283_880-282insAAGGA MANE Select | NP_000193.1:n.880-283_880-282insAAGGA | |
| NM_001166550.4:c.610-283_610-282insAAGGA | NP_001160022.1:n.610-283_610-282insAAGGA | |
| NM_006123.5:c.880-283_880-282insAAGGA | NP_006114.1:n.880-283_880-282insAAGGA | |
| NR_104128.2:n.1179-283_1179-282insAAGGA |