Linked Data
gnomAD v4:
8-38145222-CTTGAGGTCGATGCTGA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.38145223_38145238del , CM000670.2:g.38145223_38145238del | GRCh38 |
| NC_000008.10:g.38002741_38002756del , CM000670.1:g.38002741_38002756del | GRCh37 |
| NC_000008.9:g.38121898_38121913del | NCBI36 |
| NG_011827.1:g.10845_10860del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000276449.9:c.728_743del MANE Select | ENSP00000276449.3:p.Leu243ArgfsTer? | |
| ENST00000276449.8:c.728_743del | ENSP00000276449.3:p.Leu243ArgfsTer? | |
| ENST00000520114.1:n.1862_1877del | ||
| ENST00000522050.1:c.586+725_586+740del | ||
| NM_000349.2:c.728_743del | NP_000340.2:p.Leu243ArgfsTer? | |
| XM_006716392.1:c.650+725_650+740del | XP_006716455.1:n.650+725_650+740del | |
| NM_000349.3:c.728_743del MANE Select | NP_000340.2:p.Leu243ArgfsTer? |