MyVariant.info:
GRCh38
chr7:g.96189373_96189376del
GRCh38
chr7:g.96189372_96189375del
GRCh37
chr7:g.95818685_95818688del
GRCh37
chr7:g.95818684_95818687del
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00348962 (EAS)
Genomes Max Group AF
0.00383841 (EAS)
Exomes Max Group AF
0.00328502 (EAS)
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.96189373_96189376del , CM000669.2:g.96189373_96189376del | GRCh38 |
| NC_000007.13:g.95818685_95818688del , CM000669.1:g.95818685_95818688del | GRCh37 |
| NC_000007.12:g.95656621_95656624del | NCBI36 |
| NG_012247.1:g.137773_137776del | |
| NG_012247.2:g.137773_137776del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265631.10:c.852_855del MANE Select | ENSP00000265631.6:p.Met285ProfsTer2 | |
| ENST00000265631.9:c.852_855del | ENSP00000265631.5:p.Met285ProfsTer2 | |
| ENST00000416240.6:c.852_855del | ENSP00000400101.2:p.Met285ProfsTer2 | |
| ENST00000484495.5:n.5_8del | ||
| NM_001160210.1:c.852_855del | NP_001153682.1:p.Met285ProfsTer2 | |
| NM_014251.2:c.852_855del | NP_055066.1:p.Met285ProfsTer2 | |
| NR_027662.1:n.927_930del | ||
| XM_006715831.2:c.885_888del | XP_006715894.1:p.Met296ProfsTer2 | |
| XM_011515727.1:c.885_888del | XP_011514029.1:p.Met296ProfsTer2 | |
| XM_011515728.1:c.-1_3del | ||
| XM_006715831.4:c.885_888del | XP_006715894.1:p.Met296ProfsTer2 | |
| XM_011515727.3:c.885_888del | XP_011514029.1:p.Met296ProfsTer2 | |
| XM_017011663.1:c.843_846del | XP_016867152.1:p.Met282ProfsTer2 | |
| XM_017011664.2:c.-1_3del | ||
| XM_017011665.1:c.-1_3del | ||
| XR_001744525.2:n.1023_1026del | ||
| XR_002956405.1:n.1165_1168del | ||
| NM_014251.3:c.852_855del MANE Select | NP_055066.1:p.Met285ProfsTer2 | |
| NR_027662.2:n.878_881del | ||
| NM_001160210.2:c.852_855del | NP_001153682.1:p.Met285ProfsTer2 |