Linked Data
gnomAD v4:
4-41745986-CCGCTGCCGCCGCCGCCGCTGCCG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.41745989_41746011del , CM000666.2:g.41745989_41746011del | GRCh38 |
| NC_000004.11:g.41748006_41748028del , CM000666.1:g.41748006_41748028del | GRCh37 |
| NC_000004.10:g.41442763_41442785del | NCBI36 |
| NG_008243.1:g.7962_7984del , LRG_513:g.7962_7984del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000226382.4:c.743_765del MANE Select | ENSP00000226382.2:p.Ala248GlyfsTer? | |
| ENST00000226382.3:c.743_765del | ENSP00000226382.2:p.Ala248GlyfsTer? | |
| NM_003924.3:c.743_765del , LRG_513t1:c.743_765del | NP_003915.2:p.Ala248GlyfsTer? | |
| NM_003924.4:c.743_765del MANE Select | NP_003915.2:p.Ala248GlyfsTer? |