Linked Data
gnomAD v4:
8-37966341-CA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.37966342del , CM000670.2:g.37966342del | GRCh38 |
| NC_000008.10:g.37823860del , CM000670.1:g.37823860del | GRCh37 |
| NC_000008.9:g.37943017del | NCBI36 |
| NG_011936.1:g.5325del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000345060.5:c.128del MANE Select | ENSP00000343782.3:p.Leu43ArgfsTer29 | |
| ENST00000520341.2:n.256del | ||
| ENST00000345060.4:c.128del | ENSP00000343782.3:p.Leu43ArgfsTer29 | |
| ENST00000614635.1:c.128del | ENSP00000480325.1:p.Leu43ArgfsTer29 | |
| NM_000025.2:c.128del | NP_000016.1:p.Leu43ArgfsTer29 | |
| NM_000025.3:c.128del MANE Select | NP_000016.1:p.Leu43ArgfsTer29 |