Linked Data
ClinVar Variation Id:
805810
ClinVar RCV Id:
RCV000993627
dbSNP Id:
rs1592979013
ERepo:
CA16020735/MONDO:0009861/006
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102894917_102894918del , CM000674.2:g.102894917_102894918del | GRCh38 |
| NC_000012.11:g.103288695_103288696del , CM000674.1:g.103288695_103288696del | GRCh37 |
| NC_000012.10:g.101812825_101812826del | NCBI36 |
| NG_008690.1:g.27687_27688del | |
| NG_008690.2:g.68495_68496del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000553106.6:c.171_172del MANE Select | ENSP00000448059.1:p.Asn58Ter | |
| ENST00000307000.7:c.156_157del | ENSP00000303500.2:p.Asn53Ter | |
| ENST00000546844.1:c.171_172del | ENSP00000446658.1:p.Asn58Ter | |
| ENST00000548677.2:n.258_259del | ||
| ENST00000548928.1:n.93_94del | ||
| ENST00000549111.5:n.267_268del | ||
| ENST00000550978.6:c.155_156del | ||
| ENST00000551337.5:c.171_172del | ENSP00000447620.1:p.Asn58Ter | |
| ENST00000551988.5:n.260_261del | ||
| ENST00000553106.5:c.171_172del | ENSP00000448059.1:p.Asn58Ter | |
| ENST00000635500.1:n.139_140del | ||
| NM_000277.1:c.171_172del | NP_000268.1:p.Asn58Ter | |
| XM_011538422.1:c.171_172del | XP_011536724.1:p.Asn58Ter | |
| NM_000277.2:c.171_172del | NP_000268.1:p.Asn58Ter | |
| NM_001354304.1:c.171_172del | NP_001341233.1:p.Asn58Ter | |
| XM_017019370.2:c.171_172del | XP_016874859.1:p.Asn58Ter | |
| NM_000277.3:c.171_172del MANE Select | NP_000268.1:p.Asn58Ter | |
| NM_001354304.2:c.171_172del | NP_001341233.1:p.Asn58Ter |