Linked Data
dbSNP Id:
rs746000053
ExAC:
12:21327525 ATTGTAT / A
gnomAD v2:
12-21327525-ATTGTAT-A
gnomAD v4:
12-21174591-ATTGTAT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.21174596_21174601del , CM000674.2:g.21174596_21174601del | GRCh38 |
| NC_000012.11:g.21327530_21327535del , CM000674.1:g.21327530_21327535del | GRCh37 |
| NC_000012.10:g.21218797_21218802del | NCBI36 |
| NG_011745.1:g.48403_48408del , LRG_1022:g.48403_48408del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000256958.3:c.246_251del MANE Select | ENSP00000256958.2:p.Phe83_Val84del | |
| ENST00000256958.2:c.246_251del | ENSP00000256958.2:p.Phe83_Val84del | |
| ENST00000543498.5:c.426-2180_426-2175del | ||
| NM_006446.4:c.246_251del , LRG_1022t1:c.246_251del | NP_006437.3:p.Phe83_Val84del | |
| NM_006446.5:c.246_251del MANE Select | NP_006437.3:p.Phe83_Val84del |