gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000371 (NFE)
Exomes Max Group AF
0.00000321 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.43776268_43776269insAT , CM000683.2:g.43776268_43776269insAT | GRCh38 |
| NC_000021.8:g.45196149_45196150insAT , CM000683.1:g.45196149_45196150insAT | GRCh37 |
| NC_000021.7:g.44020577_44020578insAT | NCBI36 |
| NG_011545.1:g.5110_5111insAT , LRG_485:g.5110_5111insAT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291568.7:c.1_2insAT MANE Select | ENSP00000291568.6:p.Met1AsnfsTer2 | |
| ENST00000640406.1:c.1_2insAT | ENSP00000492672.1:p.Met1AsnfsTer2 | |
| ENST00000675996.1:n.62_63insAT | ||
| ENST00000291568.5:c.1_2insAT | ENSP00000291568.5:p.Met1AsnfsTer2 | |
| ENST00000480147.1:n.38_39insAT | ||
| NM_000100.3:c.1_2insAT , LRG_485t1:c.1_2insAT | NP_000091.1:p.Met1AsnfsTer2 | |
| NM_000100.4:c.1_2insAT MANE Select | NP_000091.1:p.Met1AsnfsTer2 |