Linked Data
dbSNP Id:
rs1238532652
gnomAD v3:
9-135770140-T-TGGGCTTCCCAGAGGAG
gnomAD v4:
9-135770140-T-TGGGCTTCCCAGAGGAG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.135770145_135770160dup , CM000671.2:g.135770145_135770160dup | GRCh38 |
| NC_000009.11:g.138661991_138662006dup , CM000671.1:g.138661991_138662006dup | GRCh37 |
| NC_000009.10:g.137801812_137801827dup | NCBI36 |
| NG_033070.1:g.72961_72976dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371757.7:c.1619+90_1619+105dup MANE Select | ENSP00000360822.2:n.1619+90_1619+105dup | |
| ENST00000674572.1:c.1460+90_1460+105dup | ENSP00000501742.1:n.1460+90_1460+105dup | |
| ENST00000675090.1:c.1367+90_1367+105dup | ENSP00000501833.1:n.1367+90_1367+105dup | |
| ENST00000675399.1:c.1367+90_1367+105dup | ENSP00000501932.1:n.1367+90_1367+105dup | |
| ENST00000676421.1:c.1376+90_1376+105dup | ENSP00000502322.1:n.1376+90_1376+105dup | |
| ENST00000263604.5:c.1520+90_1520+105dup | ENSP00000263604.4:n.1520+90_1520+105dup | |
| ENST00000371757.6:c.1619+90_1619+105dup | ENSP00000360822.2:n.1619+90_1619+105dup | |
| ENST00000460750.5:c.*1229+90_*1229+105dup | ENSP00000418777.1:n.*1229+90_*1229+105dup | |
| ENST00000486577.6:c.1502+90_1502+105dup | ENSP00000417578.3:n.1502+90_1502+105dup | |
| ENST00000487664.5:c.1619+90_1619+105dup | ENSP00000417851.2:n.1619+90_1619+105dup | |
| ENST00000488444.6:c.1562+90_1562+105dup | ENSP00000419007.3:n.1562+90_1562+105dup | |
| ENST00000490355.6:c.1562+90_1562+105dup | ENSP00000418003.3:n.1562+90_1562+105dup | |
| ENST00000490363.3:n.1438+90_1438+105dup | ||
| ENST00000491806.6:c.1562+90_1562+105dup | ENSP00000419086.3:n.1562+90_1562+105dup | |
| ENST00000628528.2:c.1484+90_1484+105dup | ENSP00000486374.1:n.1484+90_1484+105dup | |
| ENST00000630792.2:c.1460+90_1460+105dup | ENSP00000486486.1:n.1460+90_1460+105dup | |
| ENST00000631073.2:c.1562+90_1562+105dup | ENSP00000486130.1:n.1562+90_1562+105dup | |
| NM_001272003.1:c.1484+90_1484+105dup | NP_001258932.1:n.1484+90_1484+105dup | |
| NM_020822.2:c.1619+90_1619+105dup | NP_065873.2:n.1619+90_1619+105dup | |
| XM_011518877.1:c.1754+90_1754+105dup | XP_011517179.1:n.1754+90_1754+105dup | |
| XM_011518878.1:c.1763+90_1763+105dup | XP_011517180.1:n.1763+90_1763+105dup | |
| XM_011518879.1:c.1754+90_1754+105dup | XP_011517181.1:n.1754+90_1754+105dup | |
| XM_011518880.1:c.1520+90_1520+105dup | XP_011517182.1:n.1520+90_1520+105dup | |
| XM_011518881.1:c.1109+90_1109+105dup | XP_011517183.1:n.1109+90_1109+105dup | |
| XM_011518877.3:c.1754+90_1754+105dup | XP_011517179.1:n.1754+90_1754+105dup | |
| XM_011518878.3:c.1763+90_1763+105dup | XP_011517180.1:n.1763+90_1763+105dup | |
| XM_011518879.3:c.1754+90_1754+105dup | XP_011517181.1:n.1754+90_1754+105dup | |
| XM_011518881.3:c.1109+90_1109+105dup | XP_011517183.1:n.1109+90_1109+105dup | |
| XM_017014931.1:c.1553+90_1553+105dup | XP_016870420.1:n.1553+90_1553+105dup | |
| XM_017014932.1:c.1376+90_1376+105dup | XP_016870421.1:n.1376+90_1376+105dup | |
| XM_017014933.1:c.1109+90_1109+105dup | XP_016870422.1:n.1109+90_1109+105dup | |
| XM_024447617.1:c.1109+90_1109+105dup | XP_024303385.1:n.1109+90_1109+105dup | |
| XM_024447618.1:c.1109+90_1109+105dup | XP_024303386.1:n.1109+90_1109+105dup | |
| NM_020822.3:c.1619+90_1619+105dup MANE Select | NP_065873.2:n.1619+90_1619+105dup | |
| NM_001272003.2:c.1484+90_1484+105dup | NP_001258932.1:n.1484+90_1484+105dup |