Linked Data
dbSNP Id:
rs755524789
ExAC:
1:24175254 GAA / G
gnomAD v2:
1-24175254-GAA-G
gnomAD v4:
1-23848764-GAA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.23848765_23848766del , CM000663.2:g.23848765_23848766del | GRCh38 |
| NC_000001.10:g.24175255_24175256del , CM000663.1:g.24175255_24175256del | GRCh37 |
| NC_000001.9:g.24047842_24047843del | NCBI36 |
| NG_013346.1:g.24604_24605del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374479.4:c.1043_1044del MANE Select | ENSP00000363603.3:p.Val348AlafsTer? | |
| ENST00000374479.3:c.1043_1044del | ENSP00000363603.3:p.Val348AlafsTer? | |
| NM_000147.4:c.1043_1044del | NP_000138.2:p.Val348AlafsTer? | |
| XM_005245821.1:c.668_669del | XP_005245878.1:p.Val223AlafsTer? | |
| XM_011541167.1:c.410_411del | XP_011539469.1:p.Val137AlafsTer? | |
| XM_005245821.3:c.668_669del | XP_005245878.1:p.Val223AlafsTer? | |
| XM_011541167.3:c.410_411del | XP_011539469.1:p.Val137AlafsTer? | |
| XM_017000905.2:c.740_741del | XP_016856394.1:p.Val247AlafsTer? | |
| NM_000147.5:c.1043_1044del MANE Select | NP_000138.2:p.Val348AlafsTer? | |
| NR_174379.1:n.1221_1222del | ||
| NR_174380.1:n.1270_1271del | ||
| NR_174381.1:n.1109_1110del | ||
| NR_174382.1:n.1506_1507del |