Linked Data
dbSNP Id:
rs781784521
ExAC:
X:153641500 GGGGATAT / G
gnomAD v2:
X-153641500-GGGGATAT-G
gnomAD v3:
X-154413163-GGGGATAT-G
gnomAD v4:
X-154413163-GGGGATAT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154413168_154413174del , CM000685.2:g.154413168_154413174del | GRCh38 |
| NC_000023.10:g.153641505_153641511del , CM000685.1:g.153641505_153641511del | GRCh37 |
| NC_000023.9:g.153294699_153294705del | NCBI36 |
| NG_009634.1:g.6629_6635del | |
| NG_012884.2:g.3919_3925del | |
| NG_009634.2:g.6634_6640del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000698234.1:n.667-39_667-33del | ||
| ENST00000698235.1:n.226-39_226-33del | ||
| ENST00000698317.1:n.1154_1160del | ||
| ENST00000698318.1:n.1015_1021del | ||
| ENST00000470127.2:n.249_255del | ||
| ENST00000475699.6:c.293-39_293-33del | ENSP00000419854.3:n.293-39_293-33del | |
| ENST00000476800.2:n.1157_1163del | ||
| ENST00000483674.3:n.130-39_130-33del | ||
| ENST00000601016.6:c.239-39_239-33del MANE Select | ENSP00000469981.1:n.239-39_239-33del | |
| ENST00000612012.5:c.239-39_239-33del | ENSP00000482070.2:n.239-39_239-33del | |
| ENST00000612460.5:c.239-39_239-33del | ENSP00000481037.1:n.239-39_239-33del | |
| ENST00000614595.2:n.1550_1556del | ||
| ENST00000615658.5:n.552-39_552-33del | ||
| ENST00000616020.5:c.293-39_293-33del | ENSP00000483636.2:n.293-39_293-33del | |
| ENST00000617701.5:c.239-39_239-33del | ENSP00000481645.1:n.239-39_239-33del | |
| ENST00000621647.2:n.292-39_292-33del | ||
| ENST00000652354.1:c.-38-39_-38-33del | ENSP00000498734.1:n.-38-39_-38-33del | |
| ENST00000652358.1:c.-56-39_-56-33del | ENSP00000498464.1:n.-56-39_-56-33del | |
| ENST00000652390.1:c.158-39_158-33del | ENSP00000498858.1:n.158-39_158-33del | |
| ENST00000652476.1:n.400-39_400-33del | ||
| ENST00000652682.1:c.239-39_239-33del | ENSP00000498288.1:n.239-39_239-33del | |
| ENST00000652685.1:n.291-39_291-33del | ||
| ENST00000369776.8:c.164-39_164-33del | ENSP00000358791.4:n.164-39_164-33del | |
| ENST00000426231.5:c.55-39_55-33del | ||
| ENST00000439735.2:c.239-39_239-33del | ENSP00000398193.1:n.239-39_239-33del | |
| ENST00000475699.5:c.239-39_239-33del | ENSP00000419854.2:n.239-39_239-33del | |
| ENST00000476679.5:n.152-39_152-33del | ||
| ENST00000476800.1:n.78_84del | ||
| ENST00000479875.1:n.268-39_268-33del | ||
| ENST00000483780.5:n.13-39_13-33del | ||
| ENST00000601016.5:c.239-39_239-33del | ENSP00000469981.1:n.239-39_239-33del | |
| ENST00000612012.4:c.293-39_293-33del | ENSP00000482070.1:n.293-39_293-33del | |
| ENST00000612460.4:c.239-39_239-33del | ENSP00000481037.1:n.239-39_239-33del | |
| ENST00000613002.4:c.239-39_239-33del | ENSP00000478154.1:n.239-39_239-33del | |
| ENST00000613634.4:n.559-39_559-33del | ||
| ENST00000615658.4:n.565-39_565-33del | ||
| ENST00000615986.4:c.239-39_239-33del | ENSP00000480133.1:n.239-39_239-33del | |
| ENST00000616020.4:c.293-39_293-33del | ENSP00000483636.1:n.293-39_293-33del | |
| ENST00000617701.4:c.239-39_239-33del | ENSP00000481645.1:n.239-39_239-33del | |
| ENST00000620808.4:c.239-39_239-33del | ENSP00000479311.1:n.239-39_239-33del | |
| ENST00000621647.1:n.524-39_524-33del | ||
| NM_000116.4:c.239-39_239-33del | NP_000107.1:n.239-39_239-33del | |
| NM_001303465.1:c.293-39_293-33del | NP_001290394.1:n.293-39_293-33del | |
| NM_181311.3:c.239-39_239-33del | NP_851828.1:n.239-39_239-33del | |
| NM_181312.3:c.239-39_239-33del | NP_851829.1:n.239-39_239-33del | |
| NM_181313.3:c.239-39_239-33del | NP_851830.1:n.239-39_239-33del | |
| NR_024048.2:n.565-39_565-33del | ||
| XM_006724836.1:c.293-39_293-33del | XP_006724899.1:n.293-39_293-33del | |
| XM_006724837.1:c.293-39_293-33del | XP_006724900.1:n.293-39_293-33del | |
| XM_006724839.1:c.293-39_293-33del | XP_006724902.1:n.293-39_293-33del | |
| XM_006724841.2:c.-56-39_-56-33del | XP_006724904.1:n.-56-39_-56-33del | |
| XM_006724842.2:c.-56-39_-56-33del | XP_006724905.1:n.-56-39_-56-33del | |
| XM_011531189.1:c.293-39_293-33del | XP_011529491.1:n.293-39_293-33del | |
| XM_011531190.1:c.-56-39_-56-33del | XP_011529492.1:n.-56-39_-56-33del | |
| XM_011531191.1:c.-38-39_-38-33del | XP_011529493.1:n.-38-39_-38-33del | |
| XM_011531192.1:c.-159-39_-159-33del | XP_011529494.1:n.-159-39_-159-33del | |
| XR_938511.1:n.596-39_596-33del | ||
| XM_006724841.4:c.-56-39_-56-33del | XP_006724904.1:n.-56-39_-56-33del | |
| XM_006724842.4:c.-56-39_-56-33del | XP_006724905.1:n.-56-39_-56-33del | |
| XM_011531191.2:c.-38-39_-38-33del | XP_011529493.1:n.-38-39_-38-33del | |
| XM_017029761.1:c.239-39_239-33del | XP_016885250.1:n.239-39_239-33del | |
| XM_017029762.1:c.293-39_293-33del | XP_016885251.1:n.293-39_293-33del | |
| XM_017029763.1:c.239-39_239-33del | XP_016885252.1:n.239-39_239-33del | |
| XM_017029765.2:c.-56-39_-56-33del | XP_016885254.1:n.-56-39_-56-33del | |
| XM_024452431.1:c.293-39_293-33del | XP_024308199.1:n.293-39_293-33del | |
| NM_000116.5:c.239-39_239-33del MANE Select | NP_000107.1:n.239-39_239-33del | |
| NM_001303465.2:c.293-39_293-33del | NP_001290394.1:n.293-39_293-33del | |
| NM_181311.4:c.239-39_239-33del | NP_851828.1:n.239-39_239-33del | |
| NM_181312.4:c.239-39_239-33del | NP_851829.1:n.239-39_239-33del | |
| NM_181313.4:c.239-39_239-33del | NP_851830.1:n.239-39_239-33del | |
| NR_024048.3:n.544-39_544-33del |