gnomAD v3:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.140800322_140800327del , CM000669.2:g.140800322_140800327del | GRCh38 |
| NC_000007.13:g.140500122_140500127del , CM000669.1:g.140500122_140500127del | GRCh37 |
| NC_000007.12:g.140146591_140146596del | NCBI36 |
| NG_007873.3:g.129440_129445del , LRG_299:g.129440_129445del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000646891.2:c.980+37_980+42del MANE Select | ENSP00000493543.1:n.980+37_980+42del | |
| ENST00000288602.11:c.980+37_980+42del | ENSP00000288602.7:n.980+37_980+42del | |
| ENST00000496384.7:c.980+37_980+42del | ENSP00000419060.2:n.980+37_980+42del | |
| ENST00000497784.2:c.*430+37_*430+42del | ENSP00000420119.2:n.*430+37_*430+42del | |
| ENST00000642228.1:c.*58+37_*58+42del | ENSP00000493678.1:n.*58+37_*58+42del | |
| ENST00000642272.1:n.1049_1054del | ||
| ENST00000642875.1:n.474+37_474+42del | ||
| ENST00000644120.1:n.1422+37_1422+42del | ||
| ENST00000644650.1:c.76+37_76+42del | ||
| ENST00000644905.1:n.1069+37_1069+42del | ||
| ENST00000644969.2:c.980+37_980+42del MANE Plus Clinical | ENSP00000496776.1:n.980+37_980+42del | |
| ENST00000646730.1:c.980+37_980+42del | ENSP00000494784.1:n.980+37_980+42del | |
| ENST00000646891.1:c.980+37_980+42del | ENSP00000493543.1:n.980+37_980+42del | |
| ENST00000647434.1:c.23+37_23+42del | ENSP00000495132.1:n.23+37_23+42del | |
| ENST00000288602.10:c.980+37_980+42del | ENSP00000288602.6:n.980+37_980+42del | |
| ENST00000497784.1:c.1015+37_1015+42del | ENSP00000420119.1:n.1015+37_1015+42del | |
| NM_004333.4:c.980+37_980+42del , LRG_299t1:c.980+37_980+42del | NP_004324.2:n.980+37_980+42del | |
| XM_005250045.1:c.980+37_980+42del | XP_005250102.1:n.980+37_980+42del | |
| XM_005250046.1:c.980+37_980+42del | XP_005250103.1:n.980+37_980+42del | |
| XM_011516529.1:c.980+37_980+42del | XP_011514831.1:n.980+37_980+42del | |
| XM_011516530.1:c.980+37_980+42del | XP_011514832.1:n.980+37_980+42del | |
| XR_242190.1:n.988+37_988+42del | ||
| XR_927520.1:n.988+37_988+42del | ||
| XR_927521.1:n.988+37_988+42del | ||
| XR_927522.1:n.988+37_988+42del | ||
| XR_927523.1:n.988+37_988+42del | ||
| NM_001354609.1:c.980+37_980+42del | NP_001341538.1:n.980+37_980+42del | |
| NM_004333.5:c.980+37_980+42del | NP_004324.2:n.980+37_980+42del | |
| NR_148928.1:n.1285+37_1285+42del | ||
| XM_017012558.1:c.980+37_980+42del | XP_016868047.1:n.980+37_980+42del | |
| XM_017012559.1:c.980+37_980+42del | XP_016868048.1:n.980+37_980+42del | |
| XR_001744857.1:n.988+37_988+42del | ||
| XR_001744858.1:n.988+37_988+42del | ||
| NM_001354609.2:c.980+37_980+42del | NP_001341538.1:n.980+37_980+42del | |
| NM_001374244.1:c.980+37_980+42del | NP_001361173.1:n.980+37_980+42del | |
| NM_001374258.1:c.980+37_980+42del MANE Plus Clinical | NP_001361187.1:n.980+37_980+42del | |
| NM_004333.6:c.980+37_980+42del MANE Select | NP_004324.2:n.980+37_980+42del | |
| NM_001378467.1:c.989+37_989+42del | NP_001365396.1:n.989+37_989+42del | |
| NM_001378468.1:c.980+37_980+42del | NP_001365397.1:n.980+37_980+42del | |
| NM_001378469.1:c.980+37_980+42del | NP_001365398.1:n.980+37_980+42del | |
| NM_001378470.1:c.878+37_878+42del | NP_001365399.1:n.878+37_878+42del | |
| NM_001378471.1:c.980+37_980+42del | NP_001365400.1:n.980+37_980+42del | |
| NM_001378472.1:c.824+37_824+42del | NP_001365401.1:n.824+37_824+42del | |
| NM_001378473.1:c.824+37_824+42del | NP_001365402.1:n.824+37_824+42del | |
| NM_001378474.1:c.980+37_980+42del | NP_001365403.1:n.980+37_980+42del | |
| NM_001378475.1:c.716+37_716+42del | NP_001365404.1:n.716+37_716+42del |