Linked Data
gnomAD v4:
16-177285-C-CTGCA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.177285_177286insTGCA , CM000678.2:g.177285_177286insTGCA | GRCh38 |
| NC_000016.9:g.227284_227285insTGCA , CM000678.1:g.227284_227285insTGCA | GRCh37 |
| NC_000016.8:g.167284_167285insTGCA | NCBI36 |
| NG_000006.1:g.38148_38149insTGCA | |
| NG_059186.1:g.5635_5636insTGCA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000320868.9:c.303_304insTGCA MANE Select | ENSP00000322421.5:p.Leu102CysfsTer? | |
| ENST00000397797.1:c.207_208insTGCA | ENSP00000380899.1:p.Leu70CysfsTer? | |
| ENST00000472694.1:n.439_440insTGCA | ||
| NM_000558.4:c.303_304insTGCA | NP_000549.1:p.Leu102CysfsTer? | |
| NM_000558.5:c.303_304insTGCA MANE Select | NP_000549.1:p.Leu102CysfsTer? |