Linked Data
dbSNP Id:
rs17235416
gnomAD v2:
2-219259813-ATGTG-A
gnomAD v3:
2-218395090-ATGTG-A
gnomAD v4:
2-218395090-ATGTG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218395091_218395094del , CM000664.2:g.218395091_218395094del | GRCh38 |
| NC_000002.11:g.219259814_219259817del , CM000664.1:g.219259814_219259817del | GRCh37 |
| NC_000002.10:g.218968058_218968061del | NCBI36 |
| NG_012128.1:g.18063_18066del | |
| NG_030418.1:g.1754_1757del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000233202.11:c.*56_*59del MANE Select | ENSP00000233202.6:n.*56_*59del | |
| ENST00000233202.10:c.*56_*59del | ENSP00000233202.6:n.*56_*59del | |
| ENST00000354352.9:c.*1291_*1294del | ENSP00000346320.5:n.*1291_*1294del | |
| ENST00000465984.5:n.2160+25_2160+28del | ||
| ENST00000468221.5:n.4836_4839del | ||
| NM_000578.3:c.*56_*59del | NP_000569.3:n.*56_*59del | |
| XM_005246793.2:c.*56_*59del | XP_005246850.1:n.*56_*59del | |
| XM_005246794.2:c.*56_*59del | XP_005246851.1:n.*56_*59del | |
| XM_006712709.2:c.*56_*59del | XP_006712772.1:n.*56_*59del | |
| XM_006712710.2:c.*56_*59del | XP_006712773.1:n.*56_*59del | |
| XM_006712711.2:c.*56_*59del | XP_006712774.1:n.*56_*59del | |
| XM_011511684.1:c.*56_*59del | XP_011509986.1:n.*56_*59del | |
| XM_011511685.1:c.*56_*59del | XP_011509987.1:n.*56_*59del | |
| XM_005246793.4:c.*56_*59del | XP_005246850.1:n.*56_*59del | |
| XM_005246794.4:c.*56_*59del | XP_005246851.1:n.*56_*59del | |
| XM_006712709.4:c.*56_*59del | XP_006712772.1:n.*56_*59del | |
| XM_006712710.4:c.*56_*59del | XP_006712773.1:n.*56_*59del | |
| XM_006712711.4:c.*56_*59del | XP_006712774.1:n.*56_*59del | |
| XM_011511684.3:c.*56_*59del | XP_011509986.1:n.*56_*59del | |
| XM_011511685.3:c.*56_*59del | XP_011509987.1:n.*56_*59del | |
| XM_017004765.2:c.*56_*59del | XP_016860254.1:n.*56_*59del | |
| XM_017004766.2:c.*56_*59del | XP_016860255.1:n.*56_*59del | |
| XM_017004767.2:c.*56_*59del | XP_016860256.1:n.*56_*59del | |
| XR_427107.3:n.2724_2727del | ||
| XR_427108.4:n.3035_3038del | ||
| NM_000578.4:c.*56_*59del MANE Select | NP_000569.3:n.*56_*59del |