MyVariant.info:
GRCh38
chr4:g.88008247del
GRCh38
chr4:g.88008244del
GRCh37
chr4:g.88929399del
GRCh37
chr4:g.88929396del
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0000081 (AMR)
Genomes Max Group AF
0.00002262 (AMR)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.88008247del , CM000666.2:g.88008247del | GRCh38 |
| NC_000004.11:g.88929399del , CM000666.1:g.88929399del | GRCh37 |
| NC_000004.10:g.89148423del | NCBI36 |
| NG_008604.1:g.5580del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000237596.7:c.514del MANE Select | ENSP00000237596.2:p.Asp172ThrfsTer? | |
| ENST00000237596.6:c.514del | ENSP00000237596.2:p.Asp172ThrfsTer? | |
| ENST00000506727.1:n.16del | ||
| NM_000297.3:c.514del | NP_000288.1:p.Asp172ThrfsTer? | |
| XM_011532028.1:c.514del | XP_011530330.1:p.Asp172ThrfsTer? | |
| XR_244632.2:n.609del | ||
| NR_156488.1:n.601del | ||
| XM_011532028.2:c.514del | XP_011530330.1:p.Asp172ThrfsTer? | |
| NM_000297.4:c.514del MANE Select | NP_000288.1:p.Asp172ThrfsTer? | |
| NR_156488.2:n.613del |