Linked Data
dbSNP Id:
rs1806997828
gnomAD v3:
14-66508467-C-CGCGCGCTCCG
gnomAD v4:
14-66508467-C-CGCGCGCTCCG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.66508469_66508478dup , CM000676.2:g.66508469_66508478dup | GRCh38 |
| NC_000014.8:g.66975187_66975196dup , CM000676.1:g.66975187_66975196dup | GRCh37 |
| NC_000014.7:g.66044940_66044949dup | NCBI36 |
| NG_008875.1:g.6063_6072dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000478722.6:c.-59_-50dup MANE Select | ENSP00000417901.1:n.-59_-50dup | |
| ENST00000315266.9:c.-59_-50dup | ENSP00000312771.5:n.-59_-50dup | |
| ENST00000459628.5:c.-59_-50dup | ENSP00000452220.1:n.-59_-50dup | |
| ENST00000478722.5:c.-59_-50dup | ENSP00000417901.1:n.-59_-50dup | |
| NM_001024218.1:c.-59_-50dup | NP_001019389.1:n.-59_-50dup | |
| NM_020806.4:c.-59_-50dup | NP_065857.1:n.-59_-50dup | |
| XM_005267254.2:c.-59_-50dup | XP_005267311.1:n.-59_-50dup | |
| XM_011536340.1:c.-59_-50dup | XP_011534642.1:n.-59_-50dup | |
| XM_011536342.1:c.-59_-50dup | XP_011534644.1:n.-59_-50dup | |
| XM_011536343.1:c.-59_-50dup | XP_011534645.1:n.-59_-50dup | |
| XM_011536344.1:c.-59_-50dup | XP_011534646.1:n.-59_-50dup | |
| XM_011536345.1:c.-59_-50dup | XP_011534647.1:n.-59_-50dup | |
| XM_011536346.1:c.-59_-50dup | XP_011534648.1:n.-59_-50dup | |
| XM_011536347.1:c.-59_-50dup | XP_011534649.1:n.-59_-50dup | |
| XM_011536349.1:c.-59_-50dup | XP_011534651.1:n.-59_-50dup | |
| XM_005267254.4:c.-59_-50dup | XP_005267311.1:n.-59_-50dup | |
| XM_011536340.3:c.-59_-50dup | XP_011534642.1:n.-59_-50dup | |
| XM_011536342.3:c.-59_-50dup | XP_011534644.1:n.-59_-50dup | |
| XM_011536343.3:c.-59_-50dup | XP_011534645.1:n.-59_-50dup | |
| XM_011536344.3:c.-59_-50dup | XP_011534646.1:n.-59_-50dup | |
| XM_011536345.3:c.-59_-50dup | XP_011534647.1:n.-59_-50dup | |
| XM_011536346.3:c.-59_-50dup | XP_011534648.1:n.-59_-50dup | |
| XM_011536347.2:c.-59_-50dup | XP_011534649.1:n.-59_-50dup | |
| XM_017020913.2:c.-59_-50dup | XP_016876402.1:n.-59_-50dup | |
| XM_017020914.2:c.-59_-50dup | XP_016876403.1:n.-59_-50dup | |
| XM_017020916.2:c.-59_-50dup | XP_016876405.1:n.-59_-50dup | |
| XM_017020917.2:c.-59_-50dup | XP_016876406.1:n.-59_-50dup | |
| XM_017020918.2:c.-59_-50dup | XP_016876407.1:n.-59_-50dup | |
| XM_017020919.2:c.-59_-50dup | XP_016876408.1:n.-59_-50dup | |
| XM_017020920.2:c.-340_-331dup | XP_016876409.1:n.-340_-331dup | |
| XM_017020921.1:c.-491_-482dup | XP_016876410.1:n.-491_-482dup | |
| XM_017020923.1:c.-491_-482dup | XP_016876412.1:n.-491_-482dup | |
| XM_017020924.1:c.-1070_-1061dup | XP_016876413.1:n.-1070_-1061dup | |
| XM_017020925.2:c.-59_-50dup | XP_016876414.1:n.-59_-50dup | |
| XM_017020926.1:c.-1070_-1061dup | XP_016876415.1:n.-1070_-1061dup | |
| NM_001377514.1:c.-59_-50dup | NP_001364443.1:n.-59_-50dup | |
| NM_001377515.1:c.-59_-50dup | NP_001364444.1:n.-59_-50dup | |
| NM_001377516.1:c.-59_-50dup | NP_001364445.1:n.-59_-50dup | |
| NM_001377517.1:c.-59_-50dup | NP_001364446.1:n.-59_-50dup | |
| NM_001377518.1:c.-59_-50dup | NP_001364447.1:n.-59_-50dup | |
| NM_001377519.1:c.-59_-50dup | NP_001364448.1:n.-59_-50dup | |
| NM_001024218.2:c.-59_-50dup | NP_001019389.1:n.-59_-50dup | |
| NM_020806.5:c.-59_-50dup MANE Select | NP_065857.1:n.-59_-50dup |