Linked Data
gnomAD v4:
X-74422047-GCC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.74422048_74422049del , CM000685.2:g.74422048_74422049del | GRCh38 |
| NC_000023.10:g.73641883_73641884del , CM000685.1:g.73641883_73641884del | GRCh37 |
| NC_000023.9:g.73558608_73558609del | NCBI36 |
| NG_011641.1:g.5799_5800del | |
| NG_011641.2:g.5799_5800del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000587091.6:c.411_412del MANE Select | ENSP00000465734.1:p.Gln138SerfsTer28 | |
| ENST00000636771.1:c.157_158del | ||
| ENST00000587091.5:c.411_412del | ENSP00000465734.1:p.Gln138SerfsTer28 | |
| NM_006517.4:c.411_412del | NP_006508.2:p.Gln138SerfsTer28 | |
| XM_005262294.1:c.411_412del | XP_005262351.1:p.Gln138SerfsTer28 | |
| XM_011531015.1:c.411_412del | XP_011529317.1:p.Gln138SerfsTer28 | |
| NM_006517.5:c.411_412del MANE Select | NP_006508.2:p.Gln138SerfsTer28 |