Linked Data
gnomAD v4:
10-94981301-CCTT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94981304_94981306del , CM000672.2:g.94981304_94981306del | GRCh38 |
| NC_000010.10:g.96741061_96741063del , CM000672.1:g.96741061_96741063del | GRCh37 |
| NC_000010.9:g.96731051_96731053del | NCBI36 |
| NG_008385.1:g.47647_47649del | |
| NG_008385.2:g.48147_48149del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000260682.8:c.1083_1085del MANE Select | ENSP00000260682.6:p.Leu362del | |
| ENST00000643112.1:c.*92_*94del | ENSP00000496202.1:n.*92_*94del | |
| ENST00000260682.6:c.1083_1085del | ENSP00000260682.6:p.Leu362del | |
| NM_000771.3:c.1083_1085del | NP_000762.2:p.Leu362del | |
| NM_000771.4:c.1083_1085del MANE Select | NP_000762.2:p.Leu362del |