Linked Data
dbSNP Id:
rs782723072
gnomAD v2:
X-153648687-G-GCAGGAGGA
gnomAD v3:
X-154420348-G-GCAGGAGGA
gnomAD v4:
X-154420348-G-GCAGGAGGA
MyVariant Identifiers:
chrX:g.153648687_153648688insCAGGAGGA (hg19)
chrX:g.154420348_154420349insCAGGAGGA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154420349_154420356dup , CM000685.2:g.154420349_154420356dup | GRCh38 |
| NC_000023.10:g.153648688_153648695dup , CM000685.1:g.153648688_153648695dup | GRCh37 |
| NC_000023.9:g.153301882_153301889dup | NCBI36 |
| NG_009634.1:g.13812_13819dup | |
| NG_009634.2:g.13815_13822dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698234.1:n.1509+85_1509+92dup | ||
| ENST00000698317.1:n.2125+85_2125+92dup | ||
| ENST00000698318.1:n.1908+85_1908+92dup | ||
| ENST00000698319.1:n.1271+85_1271+92dup | ||
| ENST00000698320.1:n.1159+85_1159+92dup | ||
| ENST00000470127.2:n.1172+85_1172+92dup | ||
| ENST00000475699.6:c.663+85_663+92dup | ENSP00000419854.3:n.663+85_663+92dup | |
| ENST00000483674.3:n.581+85_581+92dup | ||
| ENST00000601016.6:c.699+85_699+92dup MANE Select | ENSP00000469981.1:n.699+85_699+92dup | |
| ENST00000612012.5:c.657+85_657+92dup | ENSP00000482070.2:n.657+85_657+92dup | |
| ENST00000612460.5:c.609+85_609+92dup | ENSP00000481037.1:n.609+85_609+92dup | |
| ENST00000614595.2:n.2046+85_2046+92dup | ||
| ENST00000615658.5:n.1288+85_1288+92dup | ||
| ENST00000616020.5:c.711+85_711+92dup | ENSP00000483636.2:n.711+85_711+92dup | |
| ENST00000617701.5:c.*712+85_*712+92dup | ENSP00000481645.1:n.*712+85_*712+92dup | |
| ENST00000651139.1:c.-195_-188dup | ENSP00000498957.1:n.-195_-188dup | |
| ENST00000652354.1:c.381+85_381+92dup | ENSP00000498734.1:n.381+85_381+92dup | |
| ENST00000652358.1:c.492+85_492+92dup | ENSP00000498464.1:n.492+85_492+92dup | |
| ENST00000652390.1:c.618+85_618+92dup | ENSP00000498858.1:n.618+85_618+92dup | |
| ENST00000652476.1:n.1365+85_1365+92dup | ||
| ENST00000652644.1:c.312+85_312+92dup | ENSP00000498496.1:n.312+85_312+92dup | |
| ENST00000652682.1:c.756+85_756+92dup | ENSP00000498288.1:n.756+85_756+92dup | |
| ENST00000652685.1:n.1052+85_1052+92dup | ||
| ENST00000369776.8:c.609+85_609+92dup | ENSP00000358791.4:n.609+85_609+92dup | |
| ENST00000426231.5:c.696+85_696+92dup | ||
| ENST00000475699.5:c.657+85_657+92dup | ENSP00000419854.2:n.657+85_657+92dup | |
| ENST00000494912.5:n.1388+85_1388+92dup | ||
| ENST00000498029.1:n.157+85_157+92dup | ||
| ENST00000601016.5:c.699+85_699+92dup | ENSP00000469981.1:n.699+85_699+92dup | |
| ENST00000612460.4:c.609+85_609+92dup | ENSP00000481037.1:n.609+85_609+92dup | |
| ENST00000613002.4:c.567+85_567+92dup | ENSP00000478154.1:n.567+85_567+92dup | |
| ENST00000615986.4:c.*427+85_*427+92dup | ENSP00000480133.1:n.*427+85_*427+92dup | |
| NM_000116.4:c.699+85_699+92dup | NP_000107.1:n.699+85_699+92dup | |
| NM_001303465.1:c.711+85_711+92dup | NP_001290394.1:n.711+85_711+92dup | |
| NM_181311.3:c.609+85_609+92dup | NP_851828.1:n.609+85_609+92dup | |
| NM_181312.3:c.657+85_657+92dup | NP_851829.1:n.657+85_657+92dup | |
| NM_181313.3:c.567+85_567+92dup | NP_851830.1:n.567+85_567+92dup | |
| NR_024048.2:n.1041+85_1041+92dup | ||
| XM_006724836.1:c.753+85_753+92dup | XP_006724899.1:n.753+85_753+92dup | |
| XM_006724837.1:c.738+85_738+92dup | XP_006724900.1:n.738+85_738+92dup | |
| XM_006724839.1:c.621+85_621+92dup | XP_006724902.1:n.621+85_621+92dup | |
| XM_006724841.2:c.492+85_492+92dup | XP_006724904.1:n.492+85_492+92dup | |
| XM_006724842.2:c.402+85_402+92dup | XP_006724905.1:n.402+85_402+92dup | |
| XM_011531189.1:c.540+85_540+92dup | XP_011529491.1:n.540+85_540+92dup | |
| XM_011531190.1:c.492+85_492+92dup | XP_011529492.1:n.492+85_492+92dup | |
| XM_011531191.1:c.423+85_423+92dup | XP_011529493.1:n.423+85_423+92dup | |
| XM_011531192.1:c.420+85_420+92dup | XP_011529494.1:n.420+85_420+92dup | |
| XR_938511.1:n.1047+85_1047+92dup | ||
| XM_006724841.4:c.492+85_492+92dup | XP_006724904.1:n.492+85_492+92dup | |
| XM_006724842.4:c.402+85_402+92dup | XP_006724905.1:n.402+85_402+92dup | |
| XM_011531191.2:c.423+85_423+92dup | XP_011529493.1:n.423+85_423+92dup | |
| XM_017029761.1:c.684+85_684+92dup | XP_016885250.1:n.684+85_684+92dup | |
| XM_017029762.1:c.663+85_663+92dup | XP_016885251.1:n.663+85_663+92dup | |
| XM_017029763.1:c.486+85_486+92dup | XP_016885252.1:n.486+85_486+92dup | |
| XM_017029764.1:c.420+85_420+92dup | XP_016885253.1:n.420+85_420+92dup | |
| XM_017029765.2:c.360+85_360+92dup | XP_016885254.1:n.360+85_360+92dup | |
| XM_024452431.1:c.657+85_657+92dup | XP_024308199.1:n.657+85_657+92dup | |
| NM_000116.5:c.699+85_699+92dup MANE Select | NP_000107.1:n.699+85_699+92dup | |
| NM_001303465.2:c.711+85_711+92dup | NP_001290394.1:n.711+85_711+92dup | |
| NM_181311.4:c.609+85_609+92dup | NP_851828.1:n.609+85_609+92dup | |
| NM_181312.4:c.657+85_657+92dup | NP_851829.1:n.657+85_657+92dup | |
| NM_181313.4:c.567+85_567+92dup | NP_851830.1:n.567+85_567+92dup | |
| NR_024048.3:n.1020+85_1020+92dup |