Linked Data
dbSNP Id:
rs1178686814
gnomAD v2:
5-58489544-TAACAATTGTCC-T
gnomAD v3:
5-59193718-TAACAATTGTCC-T
gnomAD v4:
5-59193718-TAACAATTGTCC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.59193722_59193732del , CM000667.2:g.59193722_59193732del | GRCh38 |
| NC_000005.9:g.58489548_58489558del , CM000667.1:g.58489548_58489558del | GRCh37 |
| NC_000005.8:g.58525305_58525315del | NCBI36 |
| NG_027957.1:g.1299371_1299381del | |
| NG_027957.2:g.1335601_1335611del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000507116.6:c.456-193_456-183del | ENSP00000424852.1:n.456-193_456-183del | |
| ENST00000340635.11:c.648-193_648-183del MANE Select | ENSP00000345502.6:n.648-193_648-183del | |
| ENST00000636120.1:c.318-193_318-183del | ENSP00000490821.1:n.318-193_318-183del | |
| ENST00000638939.1:c.213-193_213-183del | ENSP00000492052.1:n.213-193_213-183del | |
| ENST00000309641.10:c.456-193_456-183del | ENSP00000308485.6:n.456-193_456-183del | |
| ENST00000340635.10:c.648-193_648-183del | ENSP00000345502.6:n.648-193_648-183del | |
| ENST00000360047.9:c.240-193_240-183del | ENSP00000353152.5:n.240-193_240-183del | |
| ENST00000405053.7:n.311-193_311-183del | ||
| ENST00000405755.6:c.282-193_282-183del | ENSP00000384806.2:n.282-193_282-183del | |
| ENST00000502484.6:c.465-193_465-183del | ENSP00000423094.2:n.465-193_465-183del | |
| ENST00000502575.1:c.456-193_456-183del | ENSP00000425917.1:n.456-193_456-183del | |
| ENST00000503258.5:c.258-193_258-183del | ENSP00000425605.1:n.258-193_258-183del | |
| ENST00000505453.1:c.-98-154758_-98-154748del | ENSP00000421013.1:n.-98-154758_-98-154748del | |
| ENST00000507116.5:c.456-193_456-183del | ENSP00000424852.1:n.456-193_456-183del | |
| ENST00000515324.1:n.160-193_160-183del | ||
| ENST00000546160.5:c.255-193_255-183del | ENSP00000442734.2:n.255-193_255-183del | |
| ENST00000621323.4:n.193-193_193-183del | ||
| NM_001104631.1:c.648-193_648-183del | NP_001098101.1:n.648-193_648-183del | |
| NM_001165899.1:c.465-193_465-183del | NP_001159371.1:n.465-193_465-183del | |
| NM_001197218.1:c.456-193_456-183del | NP_001184147.1:n.456-193_456-183del | |
| NM_001197219.1:c.282-193_282-183del | NP_001184148.1:n.282-193_282-183del | |
| NM_001197220.1:c.258-193_258-183del | NP_001184149.1:n.258-193_258-183del | |
| NM_006203.4:c.240-193_240-183del | NP_006194.2:n.240-193_240-183del | |
| XM_005248537.2:c.318-193_318-183del | XP_005248594.1:n.318-193_318-183del | |
| XM_005248538.3:c.240-193_240-183del | XP_005248595.1:n.240-193_240-183del | |
| XM_011543469.1:c.612-193_612-183del | XP_011541771.1:n.612-193_612-183del | |
| XM_011543470.1:c.612-193_612-183del | XP_011541772.1:n.612-193_612-183del | |
| XM_011543471.1:c.465-193_465-183del | XP_011541773.1:n.465-193_465-183del | |
| XM_011543472.1:c.465-193_465-183del | XP_011541774.1:n.465-193_465-183del | |
| XM_011543473.1:c.465-193_465-183del | XP_011541775.1:n.465-193_465-183del | |
| XM_011543474.1:c.435-193_435-183del | XP_011541776.1:n.435-193_435-183del | |
| XM_011543475.1:c.282-193_282-183del | XP_011541777.1:n.282-193_282-183del | |
| XM_011543476.1:c.228-193_228-183del | XP_011541778.1:n.228-193_228-183del | |
| XM_011543477.1:c.207-193_207-183del | XP_011541779.1:n.207-193_207-183del | |
| XM_011543478.1:c.144-193_144-183del | XP_011541780.1:n.144-193_144-183del | |
| XM_011543479.1:c.144-193_144-183del | XP_011541781.1:n.144-193_144-183del | |
| NM_001349241.1:c.435-193_435-183del | NP_001336170.1:n.435-193_435-183del | |
| NM_001349242.1:c.318-193_318-183del | NP_001336171.1:n.318-193_318-183del | |
| NM_001349243.1:c.-47-193_-47-183del | NP_001336172.1:n.-47-193_-47-183del | |
| NM_001364599.1:c.465-193_465-183del | NP_001351528.1:n.465-193_465-183del | |
| NM_001364600.1:c.465-193_465-183del | NP_001351529.1:n.465-193_465-183del | |
| NM_001364602.1:c.456-193_456-183del | NP_001351531.1:n.456-193_456-183del | |
| NM_001364603.1:c.-303-193_-303-183del | NP_001351532.1:n.-303-193_-303-183del | |
| NM_001364604.1:c.-47-193_-47-183del | NP_001351533.1:n.-47-193_-47-183del | |
| XM_011543470.2:c.612-193_612-183del | XP_011541772.1:n.612-193_612-183del | |
| XM_011543471.2:c.465-193_465-183del | XP_011541773.1:n.465-193_465-183del | |
| XM_017009565.1:c.612-193_612-183del | XP_016865054.1:n.612-193_612-183del | |
| XM_017009566.1:c.465-193_465-183del | XP_016865055.1:n.465-193_465-183del | |
| XM_017009567.1:c.450-193_450-183del | XP_016865056.1:n.450-193_450-183del | |
| XM_024446110.1:c.612-193_612-183del | XP_024301878.1:n.612-193_612-183del | |
| XM_024446112.1:c.465-193_465-183del | XP_024301880.1:n.465-193_465-183del | |
| NM_001104631.2:c.648-193_648-183del MANE Select | NP_001098101.1:n.648-193_648-183del | |
| NM_001165899.2:c.465-193_465-183del | NP_001159371.1:n.465-193_465-183del | |
| NM_001197218.2:c.456-193_456-183del | NP_001184147.1:n.456-193_456-183del | |
| NM_001197219.2:c.282-193_282-183del | NP_001184148.1:n.282-193_282-183del | |
| NM_001197220.2:c.258-193_258-183del | NP_001184149.1:n.258-193_258-183del | |
| NM_001349241.2:c.435-193_435-183del | NP_001336170.1:n.435-193_435-183del | |
| NM_001349243.2:c.-47-193_-47-183del | NP_001336172.1:n.-47-193_-47-183del | |
| NM_001364600.2:c.465-193_465-183del | NP_001351529.1:n.465-193_465-183del | |
| NM_001364602.2:c.456-193_456-183del | NP_001351531.1:n.456-193_456-183del | |
| NM_001349242.2:c.318-193_318-183del | NP_001336171.1:n.318-193_318-183del | |
| NM_006203.5:c.240-193_240-183del | NP_006194.2:n.240-193_240-183del |