Linked Data
gnomAD v4:
6-3225536-CGTT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.3225539_3225541del , CM000668.2:g.3225539_3225541del | GRCh38 |
| NC_000006.11:g.3225773_3225775del , CM000668.1:g.3225773_3225775del | GRCh37 |
| NC_000006.10:g.3170772_3170774del | NCBI36 |
| NG_016715.1:g.7196_7198del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259818.8:c.550_552del MANE Select | ENSP00000259818.6:p.Asn184del | |
| ENST00000680070.1:n.1480_1482del | ||
| ENST00000681707.1:n.1377_1379del | ||
| ENST00000681757.1:n.855_857del | ||
| ENST00000259818.7:c.550_552del | ENSP00000259818.6:p.Asn184del | |
| ENST00000473006.1:n.667_669del | ||
| NM_178012.4:c.550_552del | NP_821080.1:p.Asn184del | |
| XM_011514571.1:c.334_336del | XP_011512873.1:p.Asn112del | |
| NM_178012.5:c.550_552del MANE Select | NP_821080.1:p.Asn184del |