Linked Data
gnomAD v2:
X-38145411-C-CTCCCCTTCTCCCTCCTCCCCT
gnomAD v3:
X-38286158-C-CTCCCCTTCTCCCTCCTCCCCT
gnomAD v4:
X-38286158-C-CTCCCCTTCTCCCTCCTCCCCT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38286169_38286170insCTCCTCCCCTTCCCCTTCTCC , CM000685.2:g.38286169_38286170insCTCCTCCCCTTCCCCTTCTCC | GRCh38 |
| NC_000023.10:g.38145422_38145423insCTCCTCCCCTTCCCCTTCTCC , CM000685.1:g.38145422_38145423insCTCCTCCCCTTCCCCTTCTCC | GRCh37 |
| NC_000023.9:g.38030366_38030367insCTCCTCCCCTTCCCCTTCTCC | NCBI36 |
| NG_009553.1:g.46377_46378insAGGGGAGGAGGGAGAAGGGGA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000494707.6:c.953+1706_953+1707insAGGGGAGGAGGGAGAAGGGGA | ||
| ENST00000642170.1:n.1826+4800_1826+4801insAGGGGAGGAGGGAGAAGGGGA | ||
| ENST00000642395.2:c.1905+935_1905+936insAGGGGAGGAGGGAGAAGGGGA | ENSP00000493468.2:n.1905+935_1905+936insAGGGGAGGAGGGAGAAGGGGA... | |
| ENST00000642739.1:c.1572+4800_1572+4801insAGGGGAGGAGGGAGAAGGGGA | ENSP00000493596.1:n.1572+4800_1572+4801insAGGGGAGGAGGGAGAAGGG... | |
| ENST00000644238.1:c.1386+4800_1386+4801insAGGGGAGGAGGGAGAAGGGGA | ENSP00000496728.1:n.1386+4800_1386+4801insAGGGGAGGAGGGAGAAGGG... | |
| ENST00000644337.1:c.1719+935_1719+936insAGGGGAGGAGGGAGAAGGGGA | ENSP00000494557.1:n.1719+935_1719+936insAGGGGAGGAGGGAGAAGGGGA... | |
| ENST00000645032.1:c.2840_2841insAGGGGAGGAGGGAGAAGGGGA MANE Select | ENSP00000495537.1:p.Glu947_Gly948insGlyGluGluGlyGluGlyGlu | |
| ENST00000645124.1:c.*101+935_*101+936insAGGGGAGGAGGGAGAAGGGGA | ENSP00000496446.1:n.*101+935_*101+936insAGGGGAGGAGGGAGAAGGGGA... | |
| ENST00000646020.1:c.*594+935_*594+936insAGGGGAGGAGGGAGAAGGGGA | ENSP00000494745.1:n.*594+935_*594+936insAGGGGAGGAGGGAGAAGGGGA... | |
| ENST00000318842.11:c.1905+935_1905+936insAGGGGAGGAGGGAGAAGGGGA | ENSP00000322219.6:n.1905+935_1905+936insAGGGGAGGAGGGAGAAGGGGA... | |
| ENST00000339363.7:c.2520+935_2520+936insAGGGGAGGAGGGAGAAGGGGA | ENSP00000343671.3:n.2520+935_2520+936insAGGGGAGGAGGGAGAAGGGGA... | |
| ENST00000378505.6:c.2840_2841insAGGGGAGGAGGGAGAAGGGGA | ENSP00000367766.2:p.Glu947_Gly948insGlyGluGluGlyGluGlyGlu | |
| ENST00000465127.1:c.172-379952_172-379951insCTCCTCCCCTTCCCCTTCTCC | ENSP00000417050.1:n.172-379952_172-379951insCTCCTCCCCTTCCCCTT... | |
| ENST00000474584.5:c.*37+4800_*37+4801insAGGGGAGGAGGGAGAAGGGGA | ENSP00000418926.1:n.*37+4800_*37+4801insAGGGGAGGAGGGAGAAGGGGA... | |
| ENST00000482855.5:c.1905+935_1905+936insAGGGGAGGAGGGAGAAGGGGA | ENSP00000419276.1:n.1905+935_1905+936insAGGGGAGGAGGGAGAAGGGGA... | |
| ENST00000494707.5:c.139+4800_139+4801insAGGGGAGGAGGGAGAAGGGGA | ||
| NM_000328.2:c.1905+935_1905+936insAGGGGAGGAGGGAGAAGGGGA | NP_000319.1:n.1905+935_1905+936insAGGGGAGGAGGGAGAAGGGGA | |
| NM_001034853.1:c.2840_2841insAGGGGAGGAGGGAGAAGGGGA | NP_001030025.1:p.Glu947_Gly948insGlyGluGluGlyGluGlyGlu | |
| XM_005272633.1:c.1572+4800_1572+4801insAGGGGAGGAGGGAGAAGGGGA | XP_005272690.1:n.1572+4800_1572+4801insAGGGGAGGAGGGAGAAGGGGA | |
| XM_011543940.1:c.1902+935_1902+936insAGGGGAGGAGGGAGAAGGGGA | XP_011542242.1:n.1902+935_1902+936insAGGGGAGGAGGGAGAAGGGGA | |
| XM_005272633.3:c.1572+4800_1572+4801insAGGGGAGGAGGGAGAAGGGGA | XP_005272690.1:n.1572+4800_1572+4801insAGGGGAGGAGGGAGAAGGGGA | |
| XM_011543940.3:c.1902+935_1902+936insAGGGGAGGAGGGAGAAGGGGA | XP_011542242.1:n.1902+935_1902+936insAGGGGAGGAGGGAGAAGGGGA | |
| XM_017029712.2:c.1569+4800_1569+4801insAGGGGAGGAGGGAGAAGGGGA | XP_016885201.1:n.1569+4800_1569+4801insAGGGGAGGAGGGAGAAGGGGA | |
| NM_001367245.1:c.1902+935_1902+936insAGGGGAGGAGGGAGAAGGGGA | NP_001354174.1:n.1902+935_1902+936insAGGGGAGGAGGGAGAAGGGGA | |
| NM_001367246.1:c.1719+935_1719+936insAGGGGAGGAGGGAGAAGGGGA | NP_001354175.1:n.1719+935_1719+936insAGGGGAGGAGGGAGAAGGGGA | |
| NM_001367247.1:c.1572+4800_1572+4801insAGGGGAGGAGGGAGAAGGGGA | NP_001354176.1:n.1572+4800_1572+4801insAGGGGAGGAGGGAGAAGGGGA | |
| NM_001367248.1:c.1602+4800_1602+4801insAGGGGAGGAGGGAGAAGGGGA | NP_001354177.1:n.1602+4800_1602+4801insAGGGGAGGAGGGAGAAGGGGA | |
| NM_001367249.1:c.1569+4800_1569+4801insAGGGGAGGAGGGAGAAGGGGA | NP_001354178.1:n.1569+4800_1569+4801insAGGGGAGGAGGGAGAAGGGGA | |
| NM_001367250.1:c.1569+4800_1569+4801insAGGGGAGGAGGGAGAAGGGGA | NP_001354179.1:n.1569+4800_1569+4801insAGGGGAGGAGGGAGAAGGGGA | |
| NM_001367251.1:c.1386+4800_1386+4801insAGGGGAGGAGGGAGAAGGGGA | NP_001354180.1:n.1386+4800_1386+4801insAGGGGAGGAGGGAGAAGGGGA | |
| NR_159803.1:n.2263+935_2263+936insAGGGGAGGAGGGAGAAGGGGA | ||
| NR_159804.1:n.1648+4800_1648+4801insAGGGGAGGAGGGAGAAGGGGA | ||
| NR_159805.1:n.1714+4800_1714+4801insAGGGGAGGAGGGAGAAGGGGA | ||
| NR_159806.1:n.1866+935_1866+936insAGGGGAGGAGGGAGAAGGGGA | ||
| NR_159807.1:n.1622+4800_1622+4801insAGGGGAGGAGGGAGAAGGGGA | ||
| NR_159808.1:n.1826+4800_1826+4801insAGGGGAGGAGGGAGAAGGGGA | ||
| NM_000328.3:c.1905+935_1905+936insAGGGGAGGAGGGAGAAGGGGA | NP_000319.1:n.1905+935_1905+936insAGGGGAGGAGGGAGAAGGGGA | |
| NM_001034853.2:c.2840_2841insAGGGGAGGAGGGAGAAGGGGA MANE Select | NP_001030025.1:p.Glu947_Gly948insGlyGluGluGlyGluGlyGlu |