Linked Data
dbSNP Id:
rs759607497
ExAC:
8:19811631 GCC / G
gnomAD v2:
8-19811631-GCC-G
gnomAD v4:
8-19954120-GCC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19954121_19954122del , CM000670.2:g.19954121_19954122del | GRCh38 |
| NC_000008.10:g.19811632_19811633del , CM000670.1:g.19811632_19811633del | GRCh37 |
| NC_000008.9:g.19855912_19855913del | NCBI36 |
| NG_008855.1:g.20051_20052del | |
| NG_008855.2:g.57405_57406del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000650287.1:c.543_544del MANE Select | ENSP00000497642.1:p.Leu182ArgfsTer6 | |
| ENST00000311322.8:c.543_544del | ENSP00000309757.6:p.Leu182ArgfsTer6 | |
| ENST00000520959.5:c.315_316del | ENSP00000428496.1:p.Leu106ArgfsTer6 | |
| NM_000237.2:c.543_544del | NP_000228.1:p.Leu182ArgfsTer6 | |
| NM_000237.3:c.543_544del MANE Select | NP_000228.1:p.Leu182ArgfsTer6 |