MyVariant.info:
GRCh38
chr17:g.47945891_47945894del
GRCh38
chr17:g.47945888_47945891del
GRCh37
chr17:g.46023257_46023260del
GRCh37
chr17:g.46023254_46023257del
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00005787 (EAS)
Exomes Max Group AF
0.00004907 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.47945891_47945894del , CM000679.2:g.47945891_47945894del | GRCh38 |
| NC_000017.10:g.46023257_46023260del , CM000679.1:g.46023257_46023260del | GRCh37 |
| NC_000017.9:g.43378256_43378259del | NCBI36 |
| NG_008744.1:g.9369_9372del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225573.5:c.417+279_417+282del | ENSP00000225573.5:n.417+279_417+282del | |
| ENST00000434554.7:c.394_397del | ENSP00000399960.3:p.Pro132ArgfsTer27 | |
| ENST00000582171.6:c.*113_*116del | ENSP00000463994.1:n.*113_*116del | |
| ENST00000583245.6:n.420_423del | ||
| ENST00000583599.6:c.208_211del | ENSP00000463919.2:p.Pro70ArgfsTer27 | |
| ENST00000584061.6:c.379_382del | ENSP00000463972.2:p.Pro127ArgfsTer27 | |
| ENST00000584806.2:n.215+279_215+282del | ||
| ENST00000641285.1:n.228_231del | ||
| ENST00000641305.1:n.1614_1617del | ||
| ENST00000641323.1:c.*467_*470del | ENSP00000492965.1:n.*467_*470del | |
| ENST00000641427.1:n.448_451del | ||
| ENST00000641511.1:c.279-432_279-429del | ||
| ENST00000641703.1:c.164_167del | ENSP00000493219.1:n.164_167del | |
| ENST00000641709.1:c.*270_*273del | ENSP00000493349.1:n.*270_*273del | |
| ENST00000641856.1:c.*956_*959del | ENSP00000493224.1:n.*956_*959del | |
| ENST00000642017.2:c.448_451del MANE Select | ENSP00000493302.2:p.Pro150ArgfsTer27 | |
| ENST00000225573.4:c.448_451del | ENSP00000225573.4:p.Pro150ArgfsTer27 | |
| ENST00000434554.6:c.417+279_417+282del | ENSP00000399960.2:n.417+279_417+282del | |
| ENST00000582171.5:c.*113_*116del | ENSP00000463994.1:n.*113_*116del | |
| ENST00000583245.5:c.*467_*470del | ENSP00000463520.1:n.*467_*470del | |
| ENST00000583599.5:c.208_211del | ENSP00000463919.1:p.Pro70ArgfsTer27 | |
| ENST00000584061.5:c.*270_*273del | ENSP00000463972.1:n.*270_*273del | |
| ENST00000584806.1:n.215+279_215+282del | ||
| ENST00000585320.5:c.*29-432_*29-429del | ENSP00000462345.1:n.*29-432_*29-429del | |
| NM_018129.3:c.448_451del | NP_060599.1:p.Pro150ArgfsTer27 | |
| XM_005257500.2:c.208_211del | XP_005257557.1:p.Pro70ArgfsTer27 | |
| XM_011524968.1:c.163_166del | XP_011523270.1:p.Pro55ArgfsTer27 | |
| XM_005257500.3:c.208_211del | XP_005257557.1:p.Pro70ArgfsTer27 | |
| XM_011524968.2:c.163_166del | XP_011523270.1:p.Pro55ArgfsTer27 | |
| XM_017024813.1:c.208_211del | XP_016880302.1:p.Pro70ArgfsTer27 | |
| NM_018129.4:c.448_451del MANE Select | NP_060599.1:p.Pro150ArgfsTer27 |