Linked Data
gnomAD v4:
4-67753950-GCT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.67753951_67753952del , CM000666.2:g.67753951_67753952del | GRCh38 |
| NC_000004.11:g.68619669_68619670del , CM000666.1:g.68619669_68619670del | GRCh37 |
| NC_000004.10:g.68302264_68302265del | NCBI36 |
| NG_009293.1:g.7135_7136del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000226413.5:c.384_385del MANE Select | ENSP00000226413.5:p.Ala129LeufsTer? | |
| ENST00000226413.4:c.384_385del | ENSP00000226413.4:p.Ala129LeufsTer? | |
| ENST00000420975.2:c.384_385del | ENSP00000397561.2:p.Ala129LeufsTer? | |
| NM_000406.2:c.384_385del | NP_000397.1:p.Ala129LeufsTer? | |
| NM_001012763.1:c.384_385del | NP_001012781.1:p.Ala129LeufsTer? | |
| NM_000406.3:c.384_385del MANE Select | NP_000397.1:p.Ala129LeufsTer? | |
| NM_001012763.2:c.384_385del | NP_001012781.1:p.Ala129LeufsTer? |