gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000124 (NFE)
Exomes Max Group AF
8.4e-7 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.104818782_104818783del , CM000671.2:g.104818782_104818783del | GRCh38 |
| NC_000009.11:g.107581063_107581064del , CM000671.1:g.107581063_107581064del | GRCh37 |
| NC_000009.10:g.106620884_106620885del | NCBI36 |
| NG_007981.1:g.114374_114375del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374736.8:c.3343_3344del MANE Select | ENSP00000363868.3:p.Ser1115ProfsTer? | |
| ENST00000678995.1:c.3343_3344del | ENSP00000504612.1:p.Ser1115ProfsTer? | |
| ENST00000374736.7:c.3343_3344del | ENSP00000363868.3:p.Ser1115ProfsTer? | |
| NM_005502.3:c.3343_3344del | NP_005493.2:p.Ser1115ProfsTer? | |
| XM_005251773.1:c.3343_3344del | XP_005251830.1:p.Ser1115ProfsTer? | |
| XM_005251776.1:c.3163_3164del | XP_005251833.1:p.Ser1055ProfsTer? | |
| XM_011518339.1:c.3418_3419del | XP_011516641.1:p.Ser1140ProfsTer? | |
| XM_011518340.1:c.3418_3419del | XP_011516642.1:p.Ser1140ProfsTer? | |
| XM_011518341.1:c.3418_3419del | XP_011516643.1:p.Ser1140ProfsTer? | |
| XM_011518342.1:c.2980_2981del | XP_011516644.1:p.Ser994ProfsTer? | |
| XM_011518343.1:c.3418_3419del | XP_011516645.1:p.Ser1140ProfsTer? | |
| XM_011518344.1:c.3418_3419del | XP_011516646.1:p.Ser1140ProfsTer? | |
| XM_005251773.3:c.3343_3344del | XP_005251830.1:p.Ser1115ProfsTer? | |
| XM_005251776.3:c.3163_3164del | XP_005251833.1:p.Ser1055ProfsTer? | |
| XM_011518339.3:c.3418_3419del | XP_011516641.1:p.Ser1140ProfsTer? | |
| XM_011518340.3:c.3418_3419del | XP_011516642.1:p.Ser1140ProfsTer? | |
| XM_011518341.3:c.3418_3419del | XP_011516643.1:p.Ser1140ProfsTer? | |
| XM_011518342.3:c.2980_2981del | XP_011516644.1:p.Ser994ProfsTer? | |
| XM_011518344.2:c.3418_3419del | XP_011516646.1:p.Ser1140ProfsTer? | |
| XM_017014378.2:c.3418_3419del | XP_016869867.1:p.Ser1140ProfsTer? | |
| XM_017014379.2:c.3418_3419del | XP_016869868.1:p.Ser1140ProfsTer? | |
| XM_017014380.2:c.3418_3419del | XP_016869869.1:p.Ser1140ProfsTer? | |
| XM_017014381.2:c.3418_3419del | XP_016869870.1:p.Ser1140ProfsTer? | |
| XM_017014382.2:c.3280_3281del | XP_016869871.1:p.Ser1094ProfsTer? | |
| XR_001746223.1:n.3731_3732del | ||
| NM_005502.4:c.3343_3344del MANE Select | NP_005493.2:p.Ser1115ProfsTer? |