MyVariant.info:
GRCh38
chr13:g.50927479del
GRCh38
chr13:g.50927478del
GRCh37
chr13:g.51501615del
GRCh37
chr13:g.51501614del
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000705 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
0.00000742 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.50927479del , CM000675.2:g.50927479del | GRCh38 |
| NC_000013.10:g.51501615del , CM000675.1:g.51501615del | GRCh37 |
| NC_000013.9:g.50399616del | NCBI36 |
| NG_009055.1:g.22724del , LRG_279:g.22724del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336617.8:c.136+1del | ||
| ENST00000422660.6:c.136+1del | ||
| ENST00000611510.5:c.46+1del | ||
| ENST00000616907.2:c.136+1del | ||
| ENST00000637648.2:c.46+1del | ||
| ENST00000642454.1:c.46+1del | ||
| ENST00000642721.1:c.136+1del | ||
| ENST00000642995.1:c.136+1del | ||
| ENST00000643159.1:c.46+1del | ||
| ENST00000643215.1:c.6+1del | ||
| ENST00000643462.1:c.136+1del | ||
| ENST00000643682.1:c.136+1del | ||
| ENST00000643774.1:c.100+1del | ||
| ENST00000644034.1:c.64+17339del | ENSP00000495456.1:n.64+17339del | |
| ENST00000644183.1:c.103+1del | ||
| ENST00000644297.1:c.136+1del | ||
| ENST00000644420.1:n.162+1del | ||
| ENST00000644425.1:c.87+1del | ||
| ENST00000644518.1:c.136+1del | ||
| ENST00000645188.1:c.136+1del | ||
| ENST00000645333.1:n.68+1del | ||
| ENST00000645549.1:n.400+1del | ||
| ENST00000645618.1:c.46+1del | ||
| ENST00000645712.1:n.169+1del | ||
| ENST00000645955.1:c.136+1del | ||
| ENST00000645990.1:c.136+1del | ||
| ENST00000646092.1:c.100+1del | ||
| ENST00000646279.1:n.433+1del | ||
| ENST00000646709.1:c.46+1del | ||
| ENST00000646731.1:c.136+1del | ||
| ENST00000646960.1:c.136+1del | ||
| ENST00000647387.1:c.46+1del | ||
| ENST00000336617.7:c.136+1del | ||
| ENST00000422660.5:c.136+1del | ||
| ENST00000611510.4:c.136+1del | ||
| NM_001142279.2:c.136+1del , LRG_279t1:c.136+1del | ||
| NM_024570.3:c.136+1del , LRG_279t2:c.136+1del | ||
| XM_005266524.2:c.136+1del | ||
| XM_005266525.2:c.136+1del | ||
| XM_006719867.2:c.118+1del | ||
| XM_011535229.1:c.136+1del | ||
| XM_011535230.1:c.136+1del | ||
| XM_011535231.1:c.136+1del | ||
| XM_011535232.1:c.-41+1del | ||
| XM_011535233.1:c.-478+1del | ||
| XM_011535234.1:c.136+1del | ||
| XM_006719867.4:c.118+1del | ||
| XM_011535230.2:c.136+1del | ||
| XM_011535231.2:c.136+1del | ||
| XM_011535233.2:c.-478+1del | ||
| XM_017020747.1:c.136+1del | ||
| NM_024570.4:c.136+1del |