MyVariant.info:
GRCh38
chr7:g.140017726del
GRCh38
chr7:g.140017723del
GRCh37
chr7:g.139717526del
GRCh37
chr7:g.139717523del
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00014086 (AMR)
Genomes Max Group AF
0.00026 (AMR)
Exomes Max Group AF
0.00005806 (AMR)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.140017726del , CM000669.2:g.140017726del | GRCh38 |
| NC_000007.13:g.139717526del , CM000669.1:g.139717526del | GRCh37 |
| NC_000007.12:g.139363995del | NCBI36 |
| NG_008422.2:g.244345del , LRG_579:g.244345del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336425.10:c.1420del | ENSP00000338087.7:p.Ala474ProfsTer11 | |
| ENST00000411653.6:c.1364+1866del | ENSP00000411326.3:n.1364+1866del | |
| ENST00000422328.6:c.*1209del | ENSP00000415892.3:n.*1209del | |
| ENST00000448866.7:c.1420del MANE Select | ENSP00000402536.3:p.Ala474ProfsTer11 | |
| ENST00000458722.6:c.1558del | ENSP00000411274.3:p.Ala520ProfsTer11 | |
| ENST00000650822.1:c.1423del | ENSP00000498517.1:p.Ala475ProfsTer11 | |
| ENST00000652056.1:c.1367+1866del | ENSP00000498271.1:n.1367+1866del | |
| ENST00000263552.10:c.1423del | ENSP00000263552.6:p.Ala475ProfsTer11 | |
| ENST00000336425.9:c.1420del | ENSP00000338087.5:p.Ala474ProfsTer11 | |
| ENST00000411653.5:c.1364+1866del | ENSP00000411326.1:n.1364+1866del | |
| ENST00000414508.6:c.1367+1866del | ENSP00000392702.2:n.1367+1866del | |
| ENST00000416849.6:c.1561del | ENSP00000389414.2:p.Ala521ProfsTer11 | |
| ENST00000422328.5:c.*1209del | ENSP00000415892.1:n.*1209del | |
| ENST00000425687.5:c.1219del | ENSP00000388736.1:p.Ala407ProfsTer11 | |
| ENST00000448866.5:c.1420del | ENSP00000402536.1:p.Ala474ProfsTer11 | |
| ENST00000458722.5:c.1558del | ENSP00000411274.1:p.Ala520ProfsTer11 | |
| NM_001061.4:c.1423del | NP_001052.2:p.Ala475ProfsTer11 | |
| NM_001130966.2:c.1423del , LRG_579t1:c.1423del | NP_001124438.1:p.Ala475ProfsTer11 | |
| NM_001166253.1:c.1561del , LRG_579t4:c.1561del | NP_001159725.1:p.Ala521ProfsTer11 | |
| NM_001166254.1:c.1219del , LRG_579t3:c.1219del | NP_001159726.1:p.Ala407ProfsTer11 | |
| NM_001314028.1:c.1363del | NP_001300957.1:p.Ala455ProfsTer11 | |
| NM_030984.3:c.1367+1866del , LRG_579t2:c.1367+1866del | NP_112246.2:n.1367+1866del | |
| NR_029394.1:c.-4294965609del | ||
| NM_001061.5:c.1420del | NP_001052.3:p.Ala474ProfsTer11 | |
| NM_001130966.3:c.1420del | NP_001124438.2:p.Ala474ProfsTer11 | |
| NM_001166253.2:c.1558del | NP_001159725.2:p.Ala520ProfsTer11 | |
| NM_001166254.2:c.1219del | NP_001159726.1:p.Ala407ProfsTer11 | |
| NM_001314028.2:c.1363del | NP_001300957.1:p.Ala455ProfsTer11 | |
| NM_001366537.1:c.1237del | NP_001353466.1:p.Ala413ProfsTer11 | |
| NM_030984.4:c.1364+1866del | NP_112246.3:n.1364+1866del | |
| XM_024446901.1:c.1165del | XP_024302669.1:p.Ala389ProfsTer11 | |
| NM_001061.7:c.1420del MANE Select | NP_001052.3:p.Ala474ProfsTer11 | |
| NM_001130966.4:c.1420del | NP_001124438.2:p.Ala474ProfsTer11 | |
| NM_001166253.3:c.1558del | NP_001159725.2:p.Ala520ProfsTer11 | |
| NM_001166254.3:c.1219del | NP_001159726.1:p.Ala407ProfsTer11 | |
| NM_001314028.3:c.1363del | NP_001300957.1:p.Ala455ProfsTer11 | |
| NM_001366537.2:c.1237del | NP_001353466.1:p.Ala413ProfsTer11 | |
| NM_030984.5:c.1364+1866del | NP_112246.3:n.1364+1866del | |
| NM_001130966.5:c.1420del | NP_001124438.2:p.Ala474ProfsTer11 | |
| NM_001166253.4:c.1558del | NP_001159725.2:p.Ala520ProfsTer11 | |
| NM_001166254.4:c.1219del | NP_001159726.1:p.Ala407ProfsTer11 | |
| NM_001314028.4:c.1363del | NP_001300957.1:p.Ala455ProfsTer11 | |
| NM_001366537.3:c.1237del | NP_001353466.1:p.Ala413ProfsTer11 | |
| NM_030984.6:c.1364+1866del | NP_112246.3:n.1364+1866del |