Linked Data
gnomAD v4:
8-38145223-T-TAC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.38145223_38145224insAC , CM000670.2:g.38145223_38145224insAC | GRCh38 |
| NC_000008.10:g.38002741_38002742insAC , CM000670.1:g.38002741_38002742insAC | GRCh37 |
| NC_000008.9:g.38121898_38121899insAC | NCBI36 |
| NG_011827.1:g.10859_10860insGT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000276449.9:c.742_743insGT MANE Select | ENSP00000276449.3:p.Lys248SerfsTer? | |
| ENST00000276449.8:c.742_743insGT | ENSP00000276449.3:p.Lys248SerfsTer? | |
| ENST00000520114.1:n.1876_1877insGT | ||
| ENST00000522050.1:c.586+739_586+740insGT | ||
| NM_000349.2:c.742_743insGT | NP_000340.2:p.Lys248SerfsTer? | |
| XM_006716392.1:c.650+739_650+740insGT | XP_006716455.1:n.650+739_650+740insGT | |
| NM_000349.3:c.742_743insGT MANE Select | NP_000340.2:p.Lys248SerfsTer? |