ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.180663914_180663915del , CM000665.2:g.180663914_180663915del | GRCh38 |
| NC_000003.11:g.180381702_180381703del , CM000665.1:g.180381702_180381703del | GRCh37 |
| NC_000003.10:g.181864396_181864397del | NCBI36 |
| NG_029581.1:g.20582_20583del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000476379.6:c.163_164del MANE Select | ENSP00000417960.2:p.Met55AspfsTer8 | |
| ENST00000650641.1:n.242_243del | ||
| ENST00000650889.1:n.335_336del | ||
| ENST00000651046.1:c.163_164del | ENSP00000499175.1:p.Met55AspfsTer8 | |
| ENST00000651818.1:n.305_306del | ||
| ENST00000652024.1:n.254_255del | ||
| ENST00000652408.1:n.300_301del | ||
| ENST00000442201.6:c.163_164del | ENSP00000405708.2:p.Met55AspfsTer8 | |
| ENST00000471307.6:c.109_110del | ENSP00000418702.2:p.Met37AspfsTer8 | |
| ENST00000476379.5:c.163_164del | ENSP00000417960.1:p.Met55AspfsTer8 | |
| NM_181426.1:c.163_164del | NP_852091.1:p.Met55AspfsTer8 | |
| NM_181426.2:c.163_164del MANE Select | NP_852091.1:p.Met55AspfsTer8 |