gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178447555_178447556del , CM000664.2:g.178447555_178447556del | GRCh38 |
| NC_000002.11:g.179312282_179312283del , CM000664.1:g.179312282_179312283del | GRCh37 |
| NC_000002.10:g.179020528_179020529del | NCBI36 |
| NG_009053.1:g.8677_8678del | |
| NG_012186.1:g.1120_1121del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000325748.9:c.267_268del MANE Select | ENSP00000318176.4:p.His89GlnfsTer22 | |
| ENST00000448279.2:c.234_235del | ENSP00000388455.1:p.His78GlnfsTer20 | |
| ENST00000457633.2:c.234_235del | ENSP00000408668.2:p.His78GlnfsTer? | |
| ENST00000676505.1:c.110_111del | ENSP00000504163.1:p.Ile37ArgfsTer18 | |
| ENST00000676832.1:c.143_144del | ENSP00000503231.1:p.Ile48ArgfsTer17 | |
| ENST00000676922.1:c.267_268del | ENSP00000503369.1:p.His89GlnfsTer20 | |
| ENST00000677206.1:c.234_235del | ENSP00000503034.1:p.His78GlnfsTer29 | |
| ENST00000677253.1:c.267_268del | ENSP00000503466.1:p.His89GlnfsTer29 | |
| ENST00000677386.1:c.267_268del | ENSP00000503003.1:p.His89GlnfsTer22 | |
| ENST00000677460.1:c.267_268del | ENSP00000504507.1:p.His89GlnfsTer22 | |
| ENST00000677584.1:c.267_268del | ENSP00000504411.1:p.His89GlnfsTer20 | |
| ENST00000677689.1:c.-38_-37del | ENSP00000502919.1:n.-38_-37del | |
| ENST00000677806.1:n.515_516del | ||
| ENST00000677859.1:c.101_102del | ||
| ENST00000677981.1:c.66-3055_66-3054del | ENSP00000503536.1:n.66-3055_66-3054del | |
| ENST00000678053.1:c.143_144del | ENSP00000504330.1:p.Ile48ArgfsTer18 | |
| ENST00000678058.1:c.117_118del | ENSP00000503203.1:p.His39GlnfsTer21 | |
| ENST00000678167.1:c.267_268del | ENSP00000504479.1:p.His89GlnfsTer20 | |
| ENST00000678775.1:c.-232_-231del | ENSP00000504030.1:n.-232_-231del | |
| ENST00000678813.1:n.515_516del | ||
| ENST00000678845.1:c.-73_-72del | ENSP00000503011.1:n.-73_-72del | |
| ENST00000679037.1:c.267_268del | ENSP00000504421.1:p.His89GlnfsTer21 | |
| ENST00000325748.8:c.267_268del | ENSP00000318176.4:p.His89GlnfsTer22 | |
| ENST00000424699.5:c.267_268del | ENSP00000408029.1:p.His89GlnfsTer29 | |
| ENST00000432031.6:c.234_235del | ENSP00000393883.2:p.His78GlnfsTer22 | |
| ENST00000448279.1:c.234_235del | ENSP00000388455.1:p.His78GlnfsTer20 | |
| ENST00000457633.1:c.234_235del | ENSP00000408668.1:p.His78GlnfsTer? | |
| ENST00000460433.5:n.370_371del | ||
| ENST00000466165.1:n.350_351del | ||
| ENST00000470200.5:n.390_391del | ||
| ENST00000487082.5:c.192_193del | ENSP00000430604.1:p.His64GlnfsTer22 | |
| NM_001139517.1:c.234_235del | NP_001132989.1:p.His78GlnfsTer22 | |
| NM_001139518.1:c.192_193del | NP_001132990.1:p.His64GlnfsTer22 | |
| NM_001316362.1:c.-183_-182del | NP_001303291.1:n.-183_-182del | |
| NM_003690.4:c.267_268del | NP_003681.1:p.His89GlnfsTer22 | |
| XM_005246921.3:c.-73_-72del | XP_005246978.1:n.-73_-72del | |
| XM_011512063.1:c.-38_-37del | XP_011510365.1:n.-38_-37del | |
| XM_011512064.1:c.-38_-37del | XP_011510366.1:n.-38_-37del | |
| XM_011512066.1:c.-183_-182del | XP_011510368.1:n.-183_-182del | |
| XM_011512063.2:c.-38_-37del | XP_011510365.1:n.-38_-37del | |
| XM_011512066.2:c.-183_-182del | XP_011510368.1:n.-183_-182del | |
| XM_017005159.1:c.-232_-231del | XP_016860648.1:n.-232_-231del | |
| XR_001739008.2:n.403_404del | ||
| NM_003690.5:c.267_268del MANE Select | NP_003681.1:p.His89GlnfsTer22 | |
| NM_001316362.2:c.-183_-182del | NP_001303291.1:n.-183_-182del |