Linked Data
gnomAD v4:
8-37965903-GCAGCGC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.37965904_37965909del , CM000670.2:g.37965904_37965909del | GRCh38 |
| NC_000008.10:g.37823422_37823427del , CM000670.1:g.37823422_37823427del | GRCh37 |
| NC_000008.9:g.37942579_37942584del | NCBI36 |
| NG_011936.1:g.5758_5763del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000345060.5:c.561_566del MANE Select | ENSP00000343782.3:p.Gln187_Cys189delinsHis | |
| ENST00000520341.2:n.689_694del | ||
| ENST00000647937.1:c.45_50del | ENSP00000497740.1:p.Gln15_Cys17delinsHis | |
| ENST00000345060.4:c.561_566del | ENSP00000343782.3:p.Gln187_Cys189delinsHis | |
| ENST00000614635.1:c.561_566del | ENSP00000480325.1:p.Gln187_Cys189delinsHis | |
| NM_000025.2:c.561_566del | NP_000016.1:p.Gln187_Cys189delinsHis | |
| NM_000025.3:c.561_566del MANE Select | NP_000016.1:p.Gln187_Cys189delinsHis |