Linked Data
gnomAD v4:
5-174729309-GCT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.174729314_174729315del , CM000667.2:g.174729314_174729315del | GRCh38 |
| NC_000005.9:g.174156317_174156318del , CM000667.1:g.174156317_174156318del | GRCh37 |
| NC_000005.8:g.174088923_174088924del | NCBI36 |
| NG_008124.1:g.9743_9744del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000239243.7:c.535_536del MANE Select | ENSP00000239243.5:p.Leu179GlufsTer? | |
| ENST00000239243.6:c.535_536del | ENSP00000239243.5:p.Leu179GlufsTer? | |
| ENST00000507785.2:c.*159_*160del | ENSP00000427425.1:n.*159_*160del | |
| NM_002449.4:c.535_536del | NP_002440.2:p.Leu179GlufsTer? | |
| NM_001363626.1:c.*159_*160del | NP_001350555.1:n.*159_*160del | |
| NM_002449.5:c.535_536del MANE Select | NP_002440.2:p.Leu179GlufsTer? | |
| NM_001363626.2:c.*159_*160del | NP_001350555.1:n.*159_*160del |