Linked Data
dbSNP Id:
rs1431059889
gnomAD v3:
8-60865136-G-GCTGCTGTGGCCTCCA
gnomAD v4:
8-60865136-G-GCTGCTGTGGCCTCCA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.60865138_60865152dup , CM000670.2:g.60865138_60865152dup | GRCh38 |
| NC_000008.10:g.61777697_61777711dup , CM000670.1:g.61777697_61777711dup | GRCh37 |
| NC_000008.9:g.61940251_61940265dup | NCBI36 |
| NG_007009.1:g.191359_191373dup , LRG_176:g.191359_191373dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695850.1:n.1375_1389dup | ||
| ENST00000695852.1:n.306_320dup | ||
| ENST00000695853.1:c.*1258_*1272dup | ENSP00000512218.1:n.*1258_*1272dup | |
| ENST00000423902.7:c.8199_8213dup MANE Select | ENSP00000392028.1:p.Thr2738_Ser2739insAlaValAlaSerThr | |
| ENST00000423902.6:c.8199_8213dup | ENSP00000392028.1:p.Thr2738_Ser2739insAlaValAlaSerThr | |
| ENST00000524602.5:c.2052_2066dup | ENSP00000437061.1:p.Thr689_Ser690insAlaValAlaSerThr | |
| ENST00000528280.1:n.245_259dup | ||
| NM_001316690.1:c.2052_2066dup | NP_001303619.1:p.Thr689_Ser690insAlaValAlaSerThr | |
| NM_017780.3:c.8199_8213dup | NP_060250.2:p.Thr2738_Ser2739insAlaValAlaSerThr | |
| XM_011517553.1:c.8289_8303dup | XP_011515855.1:p.Thr2768_Ser2769insAlaValAlaSerThr | |
| XM_011517554.1:c.8289_8303dup | XP_011515856.1:p.Thr2768_Ser2769insAlaValAlaSerThr | |
| XM_011517555.1:c.8286_8300dup | XP_011515857.1:p.Thr2767_Ser2768insAlaValAlaSerThr | |
| XM_011517556.1:c.8067_8081dup | XP_011515858.1:p.Thr2694_Ser2695insAlaValAlaSerThr | |
| XM_011517557.1:c.6276_6290dup | XP_011515859.1:p.Thr2097_Ser2098insAlaValAlaSerThr | |
| XM_011517558.1:c.5826_5840dup | XP_011515860.1:p.Thr1947_Ser1948insAlaValAlaSerThr | |
| XM_011517559.1:c.5034_5048dup | XP_011515861.1:p.Thr1683_Ser1684insAlaValAlaSerThr | |
| XM_011517553.2:c.8289_8303dup | XP_011515855.1:p.Thr2768_Ser2769insAlaValAlaSerThr | |
| XM_011517554.3:c.8289_8303dup | XP_011515856.1:p.Thr2768_Ser2769insAlaValAlaSerThr | |
| XM_011517555.2:c.8286_8300dup | XP_011515857.1:p.Thr2767_Ser2768insAlaValAlaSerThr | |
| XM_017013612.1:c.8289_8303dup | XP_016869101.1:p.Thr2768_Ser2769insAlaValAlaSerThr | |
| XM_017013613.1:c.8196_8210dup | XP_016869102.1:p.Thr2737_Ser2738insAlaValAlaSerThr | |
| NM_017780.4:c.8199_8213dup MANE Select | NP_060250.2:p.Thr2738_Ser2739insAlaValAlaSerThr |