ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2583454_2583498del , CM000673.2:g.2583454_2583498del | GRCh38 |
| NC_000011.9:g.2604684_2604728del , CM000673.1:g.2604684_2604728del | GRCh37 |
| NC_000011.8:g.2561260_2561304del | NCBI36 |
| NG_008935.1:g.143464_143508del , LRG_287:g.143464_143508del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.680_724del | ENSP00000434560.2:p.Gly227_Ile241del | |
| ENST00000646564.2:c.497_541del | ENSP00000495806.2:p.Gly166_Ile180del | |
| ENST00000155840.12:c.941_985del MANE Select | ENSP00000155840.2:p.Gly314_Ile328del | |
| ENST00000335475.6:c.560_604del | ENSP00000334497.5:p.Gly187_Ile201del | |
| ENST00000646564.1:c.143_187del | ENSP00000495806.1:p.Gly48_Ile62del | |
| ENST00000155840.9:c.941_985del | ENSP00000155840.2:p.Gly314_Ile328del | |
| ENST00000335475.5:c.560_604del | ENSP00000334497.5:p.Gly187_Ile201del | |
| NM_000218.2:c.941_985del , LRG_287t1:c.941_985del | NP_000209.2:p.Gly314_Ile328del | |
| NM_181798.1:c.560_604del , LRG_287t2:c.560_604del | NP_861463.1:p.Gly187_Ile201del | |
| NM_000218.3:c.941_985del MANE Select | NP_000209.2:p.Gly314_Ile328del |