Linked Data
dbSNP Id:
rs748360599
ExAC:
4:100341834 GTCTTT / G
gnomAD v2:
4-100341834-GTCTTT-G
gnomAD v3:
4-99420677-GTCTTT-G
gnomAD v4:
4-99420677-GTCTTT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99420678_99420682del , CM000666.2:g.99420678_99420682del | GRCh38 |
| NC_000004.11:g.100341835_100341839del , CM000666.1:g.100341835_100341839del | GRCh37 |
| NC_000004.10:g.100560858_100560862del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000437033.7:c.676_680del MANE Select | ENSP00000414254.2:p.Lys226GlnfsTer3 | |
| ENST00000209665.8:c.712_716del | ENSP00000209665.4:p.Lys238GlnfsTer3 | |
| ENST00000437033.6:c.676_680del | ENSP00000414254.2:p.Lys226GlnfsTer3 | |
| ENST00000476959.5:c.736_740del | ENSP00000420269.1:p.Lys246GlnfsTer3 | |
| ENST00000482593.5:c.505_509del | ENSP00000420613.1:p.Lys169GlnfsTer3 | |
| NM_000673.4:c.712_716del | NP_000664.2:p.Lys238GlnfsTer3 | |
| NM_001166504.1:c.736_740del | NP_001159976.1:p.Lys246GlnfsTer3 | |
| NM_000673.7:c.676_680del MANE Select | NP_000664.3:p.Lys226GlnfsTer3 | |
| NM_001166504.2:c.736_740del | NP_001159976.1:p.Lys246GlnfsTer3 |