Linked Data
dbSNP Id:
rs1565673108
gnomAD v2:
12-21327562-GA-G
gnomAD v4:
12-21174628-GA-G
MyVariant Identifiers:
chr12:g.21327563del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.21174629del , CM000674.2:g.21174629del | GRCh38 |
| NC_000012.11:g.21327563del , CM000674.1:g.21327563del | GRCh37 |
| NC_000012.10:g.21218830del | NCBI36 |
| NG_011745.1:g.48436del , LRG_1022:g.48436del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256958.3:c.279del MANE Select | ENSP00000256958.2:p.Arg93SerfsTer4 | |
| ENST00000256958.2:c.279del | ENSP00000256958.2:p.Arg93SerfsTer4 | |
| ENST00000543498.5:c.426-2147del | ||
| NM_006446.4:c.279del , LRG_1022t1:c.279del | NP_006437.3:p.Arg93SerfsTer4 | |
| NM_006446.5:c.279del MANE Select | NP_006437.3:p.Arg93SerfsTer4 |