MyVariant.info:
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00005139 (SAS)
Exomes Max Group AF
0.00005398 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.100630927_100630929del , CM000669.2:g.100630927_100630929del | GRCh38 |
| NC_000007.13:g.100228550_100228552del , CM000669.1:g.100228550_100228552del | GRCh37 |
| NC_000007.12:g.100066486_100066488del | NCBI36 |
| NG_007989.1:g.15627_15629del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000223051.8:c.1235_1237del MANE Select | ENSP00000223051.3:p.Asn412del | |
| ENST00000223051.7:c.1235_1237del | ENSP00000223051.3:p.Asn412del | |
| ENST00000431692.5:c.978_980del | ENSP00000413905.1:p.Gln326del | |
| ENST00000462090.5:n.219_221del | ||
| ENST00000462107.1:c.1235_1237del | ENSP00000420525.1:p.Asn412del | |
| ENST00000465294.5:n.983_985del | ||
| ENST00000473374.5:n.428_430del | ||
| ENST00000473963.1:n.384_386del | ||
| ENST00000476304.5:n.856_858del | ||
| ENST00000490084.5:c.588_590del | ||
| NM_001206855.1:c.722_724del | NP_001193784.1:p.Asn241del | |
| NM_003227.3:c.1235_1237del | NP_003218.2:p.Asn412del | |
| XM_005250553.3:c.1235_1237del | XP_005250610.1:p.Asn412del | |
| XM_005250554.3:c.1235_1237del | XP_005250611.1:p.Asn412del | |
| XR_927814.1:n.434-229_434-227del | ||
| NM_001206855.2:c.722_724del | NP_001193784.1:p.Asn241del | |
| XM_005250553.4:c.1235_1237del | XP_005250610.1:p.Asn412del | |
| XM_017012573.1:c.1235_1237del | XP_016868062.1:p.Asn412del | |
| NM_003227.4:c.1235_1237del MANE Select | NP_003218.2:p.Asn412del | |
| NM_001206855.3:c.722_724del | NP_001193784.1:p.Asn241del |