MyVariant.info:
GRCh38
chr11:g.2570723_2570727del
GRCh38
chr11:g.2570720_2570724del
GRCh37
chr11:g.2591953_2591957del
GRCh37
chr11:g.2591950_2591954del
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001883 (NFE)
Genomes Max Group AF
0.00001171 (NFE)
Exomes Max Group AF
0.00001746 (NFE)
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2570723_2570727del , CM000673.2:g.2570723_2570727del | GRCh38 |
| NC_000011.9:g.2591953_2591957del , CM000673.1:g.2591953_2591957del | GRCh37 |
| NC_000011.8:g.2548529_2548533del | NCBI36 |
| NG_008935.1:g.130733_130737del , LRG_287:g.130733_130737del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.312_316del | ENSP00000434560.2:p.Arg105CysfsTer? | |
| ENST00000646564.2:c.478-12712_478-12708del | ENSP00000495806.2:n.478-12712_478-12708del | |
| ENST00000155840.12:c.573_577del MANE Select | ENSP00000155840.2:p.Arg192CysfsTer? | |
| ENST00000335475.6:c.192_196del | ENSP00000334497.5:p.Arg65CysfsTer? | |
| ENST00000646564.1:c.124-12712_124-12708del | ENSP00000495806.1:n.124-12712_124-12708del | |
| ENST00000155840.9:c.573_577del | ENSP00000155840.2:p.Arg192CysfsTer? | |
| ENST00000335475.5:c.192_196del | ENSP00000334497.5:p.Arg65CysfsTer? | |
| ENST00000496887.6:c.312_316del | ENSP00000434560.1:p.Arg105CysfsTer? | |
| NM_000218.2:c.573_577del , LRG_287t1:c.573_577del | NP_000209.2:p.Arg192CysfsTer? | |
| NM_181798.1:c.192_196del , LRG_287t2:c.192_196del | NP_861463.1:p.Arg65CysfsTer? | |
| NM_000218.3:c.573_577del MANE Select | NP_000209.2:p.Arg192CysfsTer? |