Linked Data
gnomAD v4:
8-37966205-G-GGA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.37966207_37966208dup , CM000670.2:g.37966207_37966208dup | GRCh38 |
| NC_000008.10:g.37823725_37823726dup , CM000670.1:g.37823725_37823726dup | GRCh37 |
| NC_000008.9:g.37942882_37942883dup | NCBI36 |
| NG_011936.1:g.5460_5461dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000345060.5:c.263_264dup MANE Select | ENSP00000343782.3:p.Leu89SerfsTer12 | |
| ENST00000520341.2:n.391_392dup | ||
| ENST00000345060.4:c.263_264dup | ENSP00000343782.3:p.Leu89SerfsTer12 | |
| ENST00000614635.1:c.263_264dup | ENSP00000480325.1:p.Leu89SerfsTer12 | |
| NM_000025.2:c.263_264dup | NP_000016.1:p.Leu89SerfsTer12 | |
| NM_000025.3:c.263_264dup MANE Select | NP_000016.1:p.Leu89SerfsTer12 |