This is a test version of the ClinGen Allele Registry and hosts obsolete or unreal identifiers. Please visit here for the production version.
ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.57601122_57602477del , CM000673.2:g.57601122_57602477del | GRCh38 |
| NC_000011.9:g.57368595_57369950del , CM000673.1:g.57368595_57369950del | GRCh37 |
| NC_000011.8:g.57125171_57126526del | NCBI36 |
| NG_009625.1:g.8569_9924del , LRG_105:g.8569_9924del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000278407.9:c.550+745_685+308del | ||
| ENST00000528996.2:c.58+2794_58+4149del | ENSP00000431226.2:n.58+2794_58+4149del | |
| ENST00000531605.2:c.52-913_*54+308del | ||
| ENST00000619430.2:c.550+745_685+308del | ||
| ENST00000676670.1:c.550+745_685+308del | ||
| ENST00000676741.1:n.1632+745_1767+308del | ||
| ENST00000677275.1:n.537+745_980del | ||
| ENST00000677624.1:c.550+745_685+308del | ||
| ENST00000677625.1:c.550+745_685+308del | ||
| ENST00000677856.1:n.609+745_744+308del | ||
| ENST00000677915.1:c.550+745_685+308del | ||
| ENST00000678533.1:c.52-913_*54+308del | ||
| ENST00000678592.1:c.550+745_685+308del | ||
| ENST00000278407.8:c.550+745_685+308del | ||
| ENST00000340687.10:c.550+745_685+308del | ||
| ENST00000378323.8:c.565+745_700+308del | ||
| ENST00000378324.6:c.394+745_529+308del | ||
| ENST00000403558.1:c.652+745_787+308del | ||
| ENST00000531133.5:c.52-913_186+308del | ||
| ENST00000531797.5:c.52-913_*54+308del | ||
| ENST00000619430.1:c.348+947_348+2302del | ENSP00000478572.1:n.348+947_348+2302del | |
| NM_000062.2:c.550+745_685+308del , LRG_105t1:c.550+745_685+308del | ||
| NM_001032295.1:c.550+745_685+308del | ||
| NM_000062.3:c.550+745_685+308del | ||
| NM_001032295.2:c.550+745_685+308del |