Linked Data
dbSNP Id:
rs1955114540
gnomAD v2:
9-140712947-A-AAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCATGTACCG
gnomAD v3:
9-137818495-A-AAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCATGTACCG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.137818550_137818551insTTGAGGGGCGCCATGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA , CM000671.2:g.137818550_137818551insTTGAGGGGCGCCATGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA | GRCh38 |
| NC_000009.11:g.140713002_140713003insTTGAGGGGCGCCATGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA , CM000671.1:g.140713002_140713003insTTGAGGGGCGCCATGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA | GRCh37 |
| NC_000009.10:g.139832823_139832824insTTGAGGGGCGCCATGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA | NCBI36 |
| NG_011776.1:g.204559_204560insTTGAGGGGCGCCATGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000460843.6:c.3540+412_3540+413insTTGAGGGGCGCCATGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA MANE Select | ENSP00000417980.1:n.3540+412_3540+413insTTGAGGGGCGCCATGTACCGA... | |
| ENST00000636526.1:n.26+412_26+413insTTGAGGGGCGCCATGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA | ||
| ENST00000637161.1:c.3447+412_3447+413insTTGAGGGGCGCCATGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA | ENSP00000490328.1:n.3447+412_3447+413insTTGAGGGGCGCCATGTACCGA... | |
| ENST00000637261.1:c.4114+412_4114+413insTTGAGGGGCGCCATGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA | ENSP00000490815.1:n.4114+412_4114+413insTTGAGGGGCGCCATGTACCGA... | |
| ENST00000637748.1:n.521+412_521+413insTTGAGGGGCGCCATGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA | ||
| ENST00000637891.1:c.1614+412_1614+413insTTGAGGGGCGCCATGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA | ENSP00000490907.1:n.1614+412_1614+413insTTGAGGGGCGCCATGTACCGA... | |
| ENST00000460843.5:c.3540+412_3540+413insTTGAGGGGCGCCATGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA | ENSP00000417980.1:n.3540+412_3540+413insTTGAGGGGCGCCATGTACCGA... | |
| ENST00000462942.3:c.2397+412_2397+413insTTGAGGGGCGCCATGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA | ENSP00000436107.1:n.2397+412_2397+413insTTGAGGGGCGCCATGTACCGA... | |
| ENST00000475564.5:n.1264+412_1264+413insTTGAGGGGCGCCATGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA | ||
| ENST00000494249.5:n.893+412_893+413insTTGAGGGGCGCCATGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA | ||
| NM_024757.4:c.3540+412_3540+413insTTGAGGGGCGCCATGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA | NP_079033.4:n.3540+412_3540+413insTTGAGGGGCGCCATGTACCGAGACTGT... | |
| XM_005266105.3:c.3531+412_3531+413insTTGAGGGGCGCCATGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA | XP_005266162.1:n.3531+412_3531+413insTTGAGGGGCGCCATGTACCGAGAC... | |
| XM_005266110.1:c.3447+412_3447+413insTTGAGGGGCGCCATGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA | XP_005266167.1:n.3447+412_3447+413insTTGAGGGGCGCCATGTACCGAGAC... | |
| XM_006717288.2:c.3522+412_3522+413insTTGAGGGGCGCCATGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA | XP_006717351.1:n.3522+412_3522+413insTTGAGGGGCGCCATGTACCGAGAC... | |
| XM_011519021.1:c.3549+412_3549+413insTTGAGGGGCGCCATGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA | XP_011517323.1:n.3549+412_3549+413insTTGAGGGGCGCCATGTACCGAGAC... | |
| XM_011519022.1:c.3546+412_3546+413insTTGAGGGGCGCCATGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA | XP_011517324.1:n.3546+412_3546+413insTTGAGGGGCGCCATGTACCGAGAC... | |
| XM_011519023.1:c.3528+412_3528+413insTTGAGGGGCGCCATGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA | XP_011517325.1:n.3528+412_3528+413insTTGAGGGGCGCCATGTACCGAGAC... | |
| XM_011519024.1:c.3471+412_3471+413insTTGAGGGGCGCCATGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA | XP_011517326.1:n.3471+412_3471+413insTTGAGGGGCGCCATGTACCGAGAC... | |
| XM_011519025.1:c.3447+412_3447+413insTTGAGGGGCGCCATGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA | XP_011517327.1:n.3447+412_3447+413insTTGAGGGGCGCCATGTACCGAGAC... | |
| XM_011519026.1:c.3405+412_3405+413insTTGAGGGGCGCCATGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA | XP_011517328.1:n.3405+412_3405+413insTTGAGGGGCGCCATGTACCGAGAC... | |
| XM_011519029.1:c.1971+412_1971+413insTTGAGGGGCGCCATGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA | XP_011517331.1:n.1971+412_1971+413insTTGAGGGGCGCCATGTACCGAGAC... | |
| XM_011519030.1:c.1323+412_1323+413insTTGAGGGGCGCCATGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA | XP_011517332.1:n.1323+412_1323+413insTTGAGGGGCGCCATGTACCGAGAC... | |
| XM_011519031.1:c.1110+412_1110+413insTTGAGGGGCGCCATGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA | XP_011517333.1:n.1110+412_1110+413insTTGAGGGGCGCCATGTACCGAGAC... | |
| XM_011519032.1:c.1110+412_1110+413insTTGAGGGGCGCCATGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA | XP_011517334.1:n.1110+412_1110+413insTTGAGGGGCGCCATGTACCGAGAC... | |
| XM_011519033.1:c.3384+412_3384+413insTTGAGGGGCGCCATGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA | XP_011517335.1:n.3384+412_3384+413insTTGAGGGGCGCCATGTACCGAGAC... | |
| XR_930459.1:n.5297-3934_5297-3933insCGGTACATGGCGCCCCTCAATCGGCCTCTCTACAGTCTCGGTACATGGCGCCCCCCCTCAGCCTCTCTACAGTCT | ||
| NM_001354263.1:c.3519+412_3519+413insTTGAGGGGCGCCATGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA | NP_001341192.1:n.3519+412_3519+413insTTGAGGGGCGCCATGTACCGAGAC... | |
| XM_005266105.5:c.3531+412_3531+413insTTGAGGGGCGCCATGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA | XP_005266162.1:n.3531+412_3531+413insTTGAGGGGCGCCATGTACCGAGAC... | |
| XM_011519021.3:c.3549+412_3549+413insTTGAGGGGCGCCATGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA | XP_011517323.1:n.3549+412_3549+413insTTGAGGGGCGCCATGTACCGAGAC... | |
| XM_011519022.3:c.3546+412_3546+413insTTGAGGGGCGCCATGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA | XP_011517324.1:n.3546+412_3546+413insTTGAGGGGCGCCATGTACCGAGAC... | |
| XM_011519023.3:c.3528+412_3528+413insTTGAGGGGCGCCATGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA | XP_011517325.1:n.3528+412_3528+413insTTGAGGGGCGCCATGTACCGAGAC... | |
| XM_011519029.3:c.1971+412_1971+413insTTGAGGGGCGCCATGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA | XP_011517331.1:n.1971+412_1971+413insTTGAGGGGCGCCATGTACCGAGAC... | |
| XM_011519030.3:c.1323+412_1323+413insTTGAGGGGCGCCATGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA | XP_011517332.1:n.1323+412_1323+413insTTGAGGGGCGCCATGTACCGAGAC... | |
| XM_017015134.1:c.3525+412_3525+413insTTGAGGGGCGCCATGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA | XP_016870623.1:n.3525+412_3525+413insTTGAGGGGCGCCATGTACCGAGAC... | |
| XM_017015136.2:c.3441+412_3441+413insTTGAGGGGCGCCATGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA | XP_016870625.1:n.3441+412_3441+413insTTGAGGGGCGCCATGTACCGAGAC... | |
| XM_017015137.1:c.3426+412_3426+413insTTGAGGGGCGCCATGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA | XP_016870626.1:n.3426+412_3426+413insTTGAGGGGCGCCATGTACCGAGAC... | |
| XM_017015138.1:c.3426+412_3426+413insTTGAGGGGCGCCATGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA | XP_016870627.1:n.3426+412_3426+413insTTGAGGGGCGCCATGTACCGAGAC... | |
| XM_024447674.1:c.3369+412_3369+413insTTGAGGGGCGCCATGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA | XP_024303442.1:n.3369+412_3369+413insTTGAGGGGCGCCATGTACCGAGAC... | |
| XM_024447675.1:c.3303+412_3303+413insTTGAGGGGCGCCATGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA | XP_024303443.1:n.3303+412_3303+413insTTGAGGGGCGCCATGTACCGAGAC... | |
| XM_024447676.1:c.2664+412_2664+413insTTGAGGGGCGCCATGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA | XP_024303444.1:n.2664+412_2664+413insTTGAGGGGCGCCATGTACCGAGAC... | |
| XM_024447677.1:c.2664+412_2664+413insTTGAGGGGCGCCATGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA | XP_024303445.1:n.2664+412_2664+413insTTGAGGGGCGCCATGTACCGAGAC... | |
| XM_024447680.1:c.3282+412_3282+413insTTGAGGGGCGCCATGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA | XP_024303448.1:n.3282+412_3282+413insTTGAGGGGCGCCATGTACCGAGAC... | |
| NM_024757.5:c.3540+412_3540+413insTTGAGGGGCGCCATGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA MANE Select | NP_079033.4:n.3540+412_3540+413insTTGAGGGGCGCCATGTACCGAGACTGT... | |
| NM_001354263.2:c.3519+412_3519+413insTTGAGGGGCGCCATGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA | NP_001341192.1:n.3519+412_3519+413insTTGAGGGGCGCCATGTACCGAGAC... |