Linked Data
gnomAD v2:
X-148572259-T-TCCCTCACATATTCTGATGGGTTCCAAGAGATGAACATGTACACAGAAACTGATCCTTCAGTCCCTTGAAACACAG
gnomAD v3:
X-149490728-T-TCCCTCACATATTCTGATGGGTTCCAAGAGATGAACATGTACACAGAAACTGATCCTTCAGTCCCTTGAAACACAG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.149490728_149490729insCCCTCACATATTCTGATGGGTTCCAAGAGATGAACATGTACACAGAAACTGATCCTTCAGTCCCTTGAAACACAG , CM000685.2:g.149490728_149490729insCCCTCACATATTCTGATGGGTTCCAAGAGATGAACATGTACACAGAAACTGATCCTTCAGTCCCTTGAAACACAG | GRCh38 |
| NC_000023.10:g.148572259_148572260insCCCTCACATATTCTGATGGGTTCCAAGAGATGAACATGTACACAGAAACTGATCCTTCAGTCCCTTGAAACACAG , CM000685.1:g.148572259_148572260insCCCTCACATATTCTGATGGGTTCCAAGAGATGAACATGTACACAGAAACTGATCCTTCAGTCCCTTGAAACACAG | GRCh37 |
| NC_000023.9:g.148380164_148380165insCCCTCACATATTCTGATGGGTTCCAAGAGATGAACATGTACACAGAAACTGATCCTTCAGTCCCTTGAAACACAG | NCBI36 |
| NG_011900.3:g.19606_19607insCTGTGTTTCAAGGGACTGAAGGATCAGTTTCTGTGTACATGTTCATCTCTTGGAACCCATCAGAATATGTGAGGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340855.11:c.880-289_880-288insCTGTGTTTCAAGGGACTGAAGGATCAGTTTCTGTGTACATGTTCATCTCTTGGAACCCATCAGAATATGTGAGGG MANE Select | ENSP00000339801.6:n.880-289_880-288insCTGTGTTTCAAGGGACTGAAGGA... | |
| ENST00000651111.1:c.247-289_247-288insCTGTGTTTCAAGGGACTGAAGGATCAGTTTCTGTGTACATGTTCATCTCTTGGAACCCATCAGAATATGTGAGGG | ENSP00000498395.1:n.247-289_247-288insCTGTGTTTCAAGGGACTGAAGGA... | |
| ENST00000340855.10:c.880-289_880-288insCTGTGTTTCAAGGGACTGAAGGATCAGTTTCTGTGTACATGTTCATCTCTTGGAACCCATCAGAATATGTGAGGG | ENSP00000339801.6:n.880-289_880-288insCTGTGTTTCAAGGGACTGAAGGA... | |
| ENST00000370441.8:c.880-289_880-288insCTGTGTTTCAAGGGACTGAAGGATCAGTTTCTGTGTACATGTTCATCTCTTGGAACCCATCAGAATATGTGAGGG | ENSP00000359470.4:n.880-289_880-288insCTGTGTTTCAAGGGACTGAAGGA... | |
| ENST00000422081.6:c.247-289_247-288insCTGTGTTTCAAGGGACTGAAGGATCAGTTTCTGTGTACATGTTCATCTCTTGGAACCCATCAGAATATGTGAGGG | ENSP00000477056.1:n.247-289_247-288insCTGTGTTTCAAGGGACTGAAGGA... | |
| ENST00000441880.1:n.114-3631_114-3630insCTGTGTTTCAAGGGACTGAAGGATCAGTTTCTGTGTACATGTTCATCTCTTGGAACCCATCAGAATATGTGAGGG | ||
| ENST00000464251.5:c.806-289_806-288insCTGTGTTTCAAGGGACTGAAGGATCAGTTTCTGTGTACATGTTCATCTCTTGGAACCCATCAGAATATGTGAGGG | ENSP00000428980.1:n.806-289_806-288insCTGTGTTTCAAGGGACTGAAGGA... | |
| ENST00000466323.5:c.*71-289_*71-288insCTGTGTTTCAAGGGACTGAAGGATCAGTTTCTGTGTACATGTTCATCTCTTGGAACCCATCAGAATATGTGAGGG | ENSP00000418264.1:n.*71-289_*71-288insCTGTGTTTCAAGGGACTGAAGGA... | |
| ENST00000490775.5:n.665-289_665-288insCTGTGTTTCAAGGGACTGAAGGATCAGTTTCTGTGTACATGTTCATCTCTTGGAACCCATCAGAATATGTGAGGG | ||
| NM_000202.6:c.880-289_880-288insCTGTGTTTCAAGGGACTGAAGGATCAGTTTCTGTGTACATGTTCATCTCTTGGAACCCATCAGAATATGTGAGGG | NP_000193.1:n.880-289_880-288insCTGTGTTTCAAGGGACTGAAGGATCAGTT... | |
| NM_001166550.2:c.610-289_610-288insCTGTGTTTCAAGGGACTGAAGGATCAGTTTCTGTGTACATGTTCATCTCTTGGAACCCATCAGAATATGTGAGGG | NP_001160022.1:n.610-289_610-288insCTGTGTTTCAAGGGACTGAAGGATCA... | |
| NM_006123.4:c.880-289_880-288insCTGTGTTTCAAGGGACTGAAGGATCAGTTTCTGTGTACATGTTCATCTCTTGGAACCCATCAGAATATGTGAGGG | NP_006114.1:n.880-289_880-288insCTGTGTTTCAAGGGACTGAAGGATCAGTT... | |
| NR_104128.1:n.1227-289_1227-288insCTGTGTTTCAAGGGACTGAAGGATCAGTTTCTGTGTACATGTTCATCTCTTGGAACCCATCAGAATATGTGAGGG | ||
| NM_000202.7:c.880-289_880-288insCTGTGTTTCAAGGGACTGAAGGATCAGTTTCTGTGTACATGTTCATCTCTTGGAACCCATCAGAATATGTGAGGG | NP_000193.1:n.880-289_880-288insCTGTGTTTCAAGGGACTGAAGGATCAGTT... | |
| NM_001166550.3:c.610-289_610-288insCTGTGTTTCAAGGGACTGAAGGATCAGTTTCTGTGTACATGTTCATCTCTTGGAACCCATCAGAATATGTGAGGG | NP_001160022.1:n.610-289_610-288insCTGTGTTTCAAGGGACTGAAGGATCA... | |
| NM_000202.8:c.880-289_880-288insCTGTGTTTCAAGGGACTGAAGGATCAGTTTCTGTGTACATGTTCATCTCTTGGAACCCATCAGAATATGTGAGGG MANE Select | NP_000193.1:n.880-289_880-288insCTGTGTTTCAAGGGACTGAAGGATCAGTT... | |
| NM_001166550.4:c.610-289_610-288insCTGTGTTTCAAGGGACTGAAGGATCAGTTTCTGTGTACATGTTCATCTCTTGGAACCCATCAGAATATGTGAGGG | NP_001160022.1:n.610-289_610-288insCTGTGTTTCAAGGGACTGAAGGATCA... | |
| NM_006123.5:c.880-289_880-288insCTGTGTTTCAAGGGACTGAAGGATCAGTTTCTGTGTACATGTTCATCTCTTGGAACCCATCAGAATATGTGAGGG | NP_006114.1:n.880-289_880-288insCTGTGTTTCAAGGGACTGAAGGATCAGTT... | |
| NR_104128.2:n.1179-289_1179-288insCTGTGTTTCAAGGGACTGAAGGATCAGTTTCTGTGTACATGTTCATCTCTTGGAACCCATCAGAATATGTGAGGG |