Linked Data
dbSNP Id:
rs1184952037
gnomAD v2:
11-118962025-AAGTC-A
gnomAD v3:
11-119091315-AAGTC-A
gnomAD v4:
11-119091315-AAGTC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119091318_119091321del , CM000673.2:g.119091318_119091321del | GRCh38 |
| NC_000011.9:g.118962028_118962031del , CM000673.1:g.118962028_118962031del | GRCh37 |
| NC_000011.8:g.118467238_118467241del | NCBI36 |
| NG_008093.1:g.11442_11445del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000686218.1:c.334-95_334-92del | ENSP00000509288.1:n.334-95_334-92del | |
| ENST00000686690.1:n.1349-95_1349-92del | ||
| ENST00000691144.1:n.2240-95_2240-92del | ||
| ENST00000691249.1:n.1083-95_1083-92del | ||
| ENST00000442944.7:c.481-95_481-92del | ENSP00000392041.3:n.481-95_481-92del | |
| ENST00000534956.2:n.448-543_448-540del | ||
| ENST00000536813.6:c.448-95_448-92del | ENSP00000438726.2:n.448-95_448-92del | |
| ENST00000546302.6:c.421-95_421-92del | ENSP00000445599.1:n.421-95_421-92del | |
| ENST00000640813.1:c.448-543_448-540del | ENSP00000491061.1:n.448-543_448-540del | |
| ENST00000648026.1:c.493-543_493-540del | ENSP00000498044.1:n.493-543_493-540del | |
| ENST00000648374.1:c.448-95_448-92del | ENSP00000497255.1:n.448-95_448-92del | |
| ENST00000648488.1:c.*85+62_*85+65del | ENSP00000498079.1:n.*85+62_*85+65del | |
| ENST00000649823.1:n.716-95_716-92del | ||
| ENST00000649868.1:c.*207-543_*207-540del | ENSP00000497548.1:n.*207-543_*207-540del | |
| ENST00000650101.1:c.430-95_430-92del | ENSP00000496970.1:n.430-95_430-92del | |
| ENST00000650307.1:n.1325-95_1325-92del | ||
| ENST00000652429.1:c.499-95_499-92del MANE Select | ENSP00000498786.1:n.499-95_499-92del | |
| ENST00000278715.7:c.499-95_499-92del | ENSP00000278715.3:n.499-95_499-92del | |
| ENST00000392841.1:c.448-95_448-92del | ENSP00000376584.1:n.448-95_448-92del | |
| ENST00000442944.6:c.448-95_448-92del | ENSP00000392041.2:n.448-95_448-92del | |
| ENST00000534956.1:n.415-543_415-540del | ||
| ENST00000535253.5:c.448-95_448-92del | ENSP00000442079.1:n.448-95_448-92del | |
| ENST00000535793.5:c.*394-95_*394-92del | ENSP00000439904.1:n.*394-95_*394-92del | |
| ENST00000537841.5:c.448-95_448-92del | ENSP00000444730.1:n.448-95_448-92del | |
| ENST00000539986.5:c.448-95_448-92del | ENSP00000440092.1:n.448-95_448-92del | |
| ENST00000542044.5:n.944-95_944-92del | ||
| ENST00000542345.5:n.637-95_637-92del | ||
| ENST00000542729.5:c.448-95_448-92del | ENSP00000443058.1:n.448-95_448-92del | |
| ENST00000542822.5:c.*435-95_*435-92del | ENSP00000444817.1:n.*435-95_*435-92del | |
| ENST00000543090.5:c.445-95_445-92del | ENSP00000445429.1:n.445-95_445-92del | |
| ENST00000543543.5:n.734-95_734-92del | ||
| ENST00000544360.5:n.467-95_467-92del | ||
| ENST00000544387.5:c.499-95_499-92del | ENSP00000438424.1:n.499-95_499-92del | |
| ENST00000545621.5:c.*394-95_*394-92del | ENSP00000444849.1:n.*394-95_*394-92del | |
| ENST00000546226.5:n.787-95_787-92del | ||
| ENST00000546302.5:c.421-95_421-92del | ENSP00000445599.1:n.421-95_421-92del | |
| NM_000190.3:c.499-95_499-92del | NP_000181.2:n.499-95_499-92del | |
| NM_001024382.1:c.448-95_448-92del | NP_001019553.1:n.448-95_448-92del | |
| NM_001258208.1:c.499-95_499-92del | NP_001245137.1:n.499-95_499-92del | |
| NM_001258209.1:c.448-95_448-92del | NP_001245138.1:n.448-95_448-92del | |
| XM_005271531.1:c.448-95_448-92del | XP_005271588.1:n.448-95_448-92del | |
| XM_005271532.1:c.448-95_448-92del | XP_005271589.1:n.448-95_448-92del | |
| XM_005271533.2:c.445-95_445-92del | XP_005271590.1:n.445-95_445-92del | |
| XM_011542796.1:c.334-95_334-92del | XP_011541098.1:n.334-95_334-92del | |
| NM_000190.4:c.499-95_499-92del MANE Select | NP_000181.2:n.499-95_499-92del | |
| NM_001024382.2:c.448-95_448-92del | NP_001019553.1:n.448-95_448-92del | |
| XM_005271533.3:c.445-95_445-92del | XP_005271590.1:n.445-95_445-92del | |
| XM_017017629.1:c.448-95_448-92del | XP_016873118.1:n.448-95_448-92del | |
| XM_024448460.1:c.445-95_445-92del | XP_024304228.1:n.445-95_445-92del | |
| NM_001258208.2:c.499-95_499-92del | NP_001245137.1:n.499-95_499-92del | |
| NM_001258209.2:c.448-95_448-92del | NP_001245138.1:n.448-95_448-92del |