MyVariant.info:
GRCh38
chr5:g.80675103del
GRCh38
chr5:g.80675096del
GRCh37
chr5:g.79970922del
GRCh37
chr5:g.79970915del
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00005306 (NFE)
Genomes Max Group AF
0.00001979 (NFE)
Exomes Max Group AF
0.00005342 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.80675103del , CM000667.2:g.80675103del | GRCh38 |
| NC_000005.9:g.79970922del , CM000667.1:g.79970922del | GRCh37 |
| NC_000005.8:g.80006678del | NCBI36 |
| NG_016607.1:g.25629del | |
| NG_016607.2:g.25629del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265081.7:c.1148del MANE Select | ENSP00000265081.6:p.Lys383ArgfsTer? | |
| ENST00000658259.1:c.980del | ENSP00000499617.1:p.Lys327ArgfsTer? | |
| ENST00000667069.1:c.1148del | ENSP00000499502.1:p.Lys383ArgfsTer? | |
| ENST00000670357.1:c.1148del | ENSP00000499791.1:p.Lys383ArgfsTer? | |
| ENST00000265081.6:c.1148del | ENSP00000265081.6:p.Lys383ArgfsTer? | |
| NM_002439.4:c.1148del | NP_002430.3:p.Lys383ArgfsTer? | |
| NM_002439.5:c.1148del MANE Select | NP_002430.3:p.Lys383ArgfsTer? |