Linked Data
dbSNP Id:
rs752452960
ExAC:
1:2340137 CTG / C
gnomAD v2:
1-2340137-CTG-C
gnomAD v4:
1-2408698-CTG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.2408699_2408700del , CM000663.2:g.2408699_2408700del | GRCh38 |
| NC_000001.10:g.2340138_2340139del , CM000663.1:g.2340138_2340139del | GRCh37 |
| NC_000001.9:g.2329998_2329999del | NCBI36 |
| NG_008342.1:g.8872_8873del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000288774.8:c.352_353del | ENSP00000288774.3:p.Gln118GlyfsTer2 | |
| ENST00000447513.7:c.352_353del MANE Select | ENSP00000407922.2:p.Gln118GlyfsTer2 | |
| ENST00000650293.1:c.306_307del | ||
| ENST00000288774.7:c.352_353del | ENSP00000288774.3:p.Gln118GlyfsTer2 | |
| ENST00000447513.6:c.352_353del | ENSP00000407922.2:p.Gln118GlyfsTer2 | |
| ENST00000502666.1:c.557_558del | ENSP00000461951.1:n.557_558del | |
| ENST00000507596.5:c.352_353del | ENSP00000424291.1:p.Gln118GlyfsTer2 | |
| ENST00000508384.5:c.-81_-80del | ENSP00000464289.1:n.-81_-80del | |
| ENST00000510434.1:c.352_353del | ENSP00000423051.1:p.Gln118GlyfsTer2 | |
| ENST00000515760.1:n.486_487del | ||
| NM_002617.3:c.352_353del | NP_002608.1:p.Gln118GlyfsTer2 | |
| NM_153818.1:c.352_353del | NP_722540.1:p.Gln118GlyfsTer2 | |
| XM_011541573.1:c.352_353del | XP_011539875.1:p.Gln118GlyfsTer2 | |
| XM_011541574.1:c.-81_-80del | XP_011539876.1:n.-81_-80del | |
| XM_011541575.1:c.-81_-80del | XP_011539877.1:n.-81_-80del | |
| XM_011541576.1:c.352_353del | XP_011539878.1:p.Gln118GlyfsTer2 | |
| XR_946666.1:n.472_473del | ||
| XM_011541576.2:c.352_353del | XP_011539878.1:p.Gln118GlyfsTer2 | |
| XR_946666.2:n.421_422del | ||
| NM_001374425.1:c.352_353del | NP_001361354.1:p.Gln118GlyfsTer2 | |
| NM_001374426.1:c.-81_-80del | NP_001361355.1:n.-81_-80del | |
| NM_001374427.1:c.-81_-80del | NP_001361356.1:n.-81_-80del | |
| NM_002617.4:c.352_353del MANE Select | NP_002608.1:p.Gln118GlyfsTer2 | |
| NM_153818.2:c.352_353del | NP_722540.1:p.Gln118GlyfsTer2 | |
| NR_164636.1:n.471_472del |