gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.04131988 (AFR)
Genomes Max Group AF
0.04131988 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.93359971C>T , CM000673.2:g.93359971C>T | GRCh38 |
| NC_000011.9:g.93093137C>T , CM000673.1:g.93093137C>T | GRCh37 |
| NC_000011.8:g.92732785C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298050.9:c.297+2928C>T (DEUP1) MANE Select | ENSP00000298050.3:n.297+2928C>T | |
| ENST00000298050.7:c.297+2928C>T (DEUP1) | ENSP00000298050.3:n.297+2928C>T | |
| ENST00000530862.6:c.234+2928C>T (DEUP1) | ENSP00000431946.3:n.234+2928C>T | |
| ENST00000531448.5:c.297+2928C>T (DEUP1) | ENSP00000435527.1:n.297+2928C>T | |
| ENST00000531792.5:c.297+2928C>T (DEUP1) | ENSP00000433537.2:n.297+2928C>T | |
| ENST00000532819.5:c.297+2928C>T (DEUP1) | ENSP00000434635.1:n.297+2928C>T | |
| ENST00000534747.5:c.297+2928C>T (DEUP1) | ENSP00000432111.2:n.297+2928C>T | |
| ENST00000618031.4:c.297+2928C>T (DEUP1) | ENSP00000479457.1:n.297+2928C>T | |
| NM_181645.3:c.297+2928C>T (DEUP1) | NP_857596.2:n.297+2928C>T | |
| XM_005273802.1:c.297+2928C>T (DEUP1) | XP_005273859.1:n.297+2928C>T | |
| XM_011542629.1:c.297+2928C>T (DEUP1) | XP_011540931.1:n.297+2928C>T | |
| XM_011542630.1:c.297+2928C>T (DEUP1) | XP_011540932.1:n.297+2928C>T | |
| XM_011542631.1:c.297+2928C>T (DEUP1) | XP_011540933.1:n.297+2928C>T | |
| XM_011542632.1:c.297+2928C>T (DEUP1) | XP_011540934.1:n.297+2928C>T | |
| XM_011542633.1:c.297+2928C>T (DEUP1) | XP_011540935.1:n.297+2928C>T | |
| XM_011542634.1:c.297+2928C>T (DEUP1) | XP_011540936.1:n.297+2928C>T | |
| XM_011542635.1:c.297+2928C>T (DEUP1) | XP_011540937.1:n.297+2928C>T | |
| XM_011542637.1:c.297+2928C>T (DEUP1) | XP_011540939.1:n.297+2928C>T | |
| XR_947796.1:n.438+2928C>T (DEUP1) | ||
| XR_947797.1:n.438+2928C>T (DEUP1) | ||
| XR_947798.1:n.438+2928C>T (DEUP1) | ||
| XR_947799.1:n.438+2928C>T (DEUP1) | ||
| XR_947800.1:n.438+2928C>T (DEUP1) | ||
| XR_947899.1:n.189+5376G>A | ||
| XR_947900.1:n.189+5376G>A | ||
| XM_011542629.2:c.297+2928C>T (DEUP1) | XP_011540931.1:n.297+2928C>T | |
| XM_011542631.2:c.297+2928C>T (DEUP1) | XP_011540933.1:n.297+2928C>T | |
| XM_011542632.3:c.297+2928C>T (DEUP1) | XP_011540934.1:n.297+2928C>T | |
| XM_011542633.2:c.297+2928C>T (DEUP1) | XP_011540935.1:n.297+2928C>T | |
| XM_011542635.2:c.297+2928C>T (DEUP1) | XP_011540937.1:n.297+2928C>T | |
| XM_011542637.2:c.297+2928C>T (DEUP1) | XP_011540939.1:n.297+2928C>T | |
| XM_017017245.1:c.297+2928C>T (DEUP1) | XP_016872734.1:n.297+2928C>T | |
| XM_024448341.1:c.-3+5376G>A (SLC36A4) | XP_024304109.1:n.-3+5376G>A | |
| XR_947797.2:n.427+2928C>T (DEUP1) | ||
| XR_947798.2:n.427+2928C>T (DEUP1) | ||
| XR_947799.2:n.427+2928C>T (DEUP1) | ||
| XR_947800.2:n.427+2928C>T (DEUP1) | ||
| NM_181645.4:c.297+2928C>T (DEUP1) MANE Select | NP_857596.2:n.297+2928C>T |