ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.41163038_41163040del , CM000668.2:g.41163038_41163040del | GRCh38 |
| NC_000006.11:g.41130776_41130778del , CM000668.1:g.41130776_41130778del | GRCh37 |
| NC_000006.10:g.41238754_41238756del | NCBI36 |
| NG_011561.1:g.5146_5148del , LRG_631:g.5146_5148del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373113.8:c.40+4_40+6del MANE Select | ENSP00000362205.3:n.40+4_40+6del | |
| ENST00000338469.3:c.40+4_40+6del | ENSP00000342651.4:n.40+4_40+6del | |
| ENST00000373113.7:c.40+4_40+6del | ENSP00000362205.3:n.40+4_40+6del | |
| ENST00000373122.8:c.40+4_40+6del | ENSP00000362214.4:n.40+4_40+6del | |
| NM_001271821.1:c.40+4_40+6del | NP_001258750.1:n.40+4_40+6del | |
| NM_018965.3:c.40+4_40+6del , LRG_631t1:c.40+4_40+6del | NP_061838.1:n.40+4_40+6del | |
| XM_006715116.2:c.130+4_130+6del | XP_006715179.1:n.130+4_130+6del | |
| XR_926795.1:n.222+7475_222+7477del | ||
| XR_926796.1:n.214+7475_214+7477del | ||
| XR_926797.1:n.188+7475_188+7477del | ||
| XR_926795.2:n.517+7475_517+7477del | ||
| XR_926797.2:n.232+7475_232+7477del | ||
| NM_001271821.2:c.40+4_40+6del | NP_001258750.1:n.40+4_40+6del | |
| NM_018965.4:c.40+4_40+6del MANE Select | NP_061838.1:n.40+4_40+6del |