Linked Data
gnomAD v4:
1-171652225-GTCCCGC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.171652232_171652237del , CM000663.2:g.171652232_171652237del | GRCh38 |
| NC_000001.10:g.171621372_171621377del , CM000663.1:g.171621372_171621377del | GRCh37 |
| NC_000001.9:g.169887995_169888000del | NCBI36 |
| NG_008859.1:g.5403_5408del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000037502.11:c.381_386del MANE Select | ENSP00000037502.5:p.Glu127_Arg128del | |
| ENST00000638471.1:c.130+251_130+256del | ENSP00000491206.1:n.130+251_130+256del | |
| ENST00000037502.10:c.381_386del | ENSP00000037502.5:p.Glu127_Arg128del | |
| ENST00000614688.1:c.381_386del | ENSP00000478680.1:p.Glu127_Arg128del | |
| NM_000261.1:c.381_386del | NP_000252.1:p.Glu127_Arg128del | |
| NM_000261.2:c.381_386del MANE Select | NP_000252.1:p.Glu127_Arg128del |