gnomAD v2:
gnomAD v3:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.235712093del , CM000663.2:g.235712093del | GRCh38 |
| NC_000001.10:g.235875393del , CM000663.1:g.235875393del | GRCh37 |
| NC_000001.9:g.233942016del | NCBI36 |
| NG_007397.1:g.176552del , LRG_143:g.176552del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000462376.2:n.1303del | ||
| ENST00000697178.1:c.*5588del | ENSP00000513163.1:n.*5588del | |
| ENST00000697179.1:n.2602del | ||
| ENST00000697235.1:c.443del | ENSP00000513202.1:p.Phe148SerfsTer7 | |
| ENST00000697236.1:c.3357del | ENSP00000513203.1:n.3357del | |
| ENST00000697237.1:c.741-2885del | ||
| ENST00000697240.1:c.2027del | ENSP00000513205.1:p.Phe676SerfsTer7 | |
| ENST00000389793.7:c.9893del MANE Select | ENSP00000374443.2:p.Phe3298SerfsTer7 | |
| ENST00000389793.6:c.9893del | ENSP00000374443.2:p.Phe3298SerfsTer7 | |
| ENST00000389794.7:c.*5317del | ENSP00000374444.4:n.*5317del | |
| ENST00000462376.1:n.312del | ||
| ENST00000473037.5:n.4883del | ||
| NM_000081.3:c.9893del , LRG_143t1:c.9893del | NP_000072.2:p.Phe3298SerfsTer7 | |
| NM_001301365.1:c.9893del , LRG_143t2:c.9893del | NP_001288294.1:p.Phe3298SerfsTer7 | |
| XM_011544031.1:c.10055del | XP_011542333.1:p.Phe3352SerfsTer7 | |
| XM_011544032.1:c.10055del | XP_011542334.1:p.Phe3352SerfsTer7 | |
| XM_011544033.1:c.10055del | XP_011542335.1:p.Phe3352SerfsTer7 | |
| XM_011544034.1:c.9917del | XP_011542336.1:p.Phe3306SerfsTer7 | |
| XM_011544036.1:c.7718del | XP_011542338.1:p.Phe2573SerfsTer7 | |
| XM_011544033.2:c.10055del | XP_011542335.1:p.Phe3352SerfsTer7 | |
| XM_011544036.2:c.7718del | XP_011542338.1:p.Phe2573SerfsTer7 | |
| XM_017000150.1:c.10055del | XP_016855639.1:p.Phe3352SerfsTer7 | |
| NM_000081.4:c.9893del MANE Select | NP_000072.2:p.Phe3298SerfsTer7 |