Linked Data
dbSNP Id:
rs1557851805
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.154571714_154571728del , CM000663.2:g.154571714_154571728del | GRCh38 |
| NC_000001.10:g.154544190_154544204del , CM000663.1:g.154544190_154544204del | GRCh37 |
| NC_000001.9:g.152810814_152810828del | NCBI36 |
| NG_008027.1:g.8934_8948del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368476.4:c.891_905del MANE Select | ENSP00000357461.3:p.Gly298_Met302del | |
| ENST00000636034.1:c.891_905del | ENSP00000489703.1:p.Gly298_Met302del | |
| ENST00000637900.1:c.897_911del | ENSP00000490474.1:p.Gly300_Met304del | |
| ENST00000368476.3:c.891_905del | ENSP00000357461.3:p.Gly298_Met302del | |
| NM_000748.2:c.891_905del | NP_000739.1:p.Gly298_Met302del | |
| XM_017000180.2:c.381_395del | XP_016855669.1:p.Gly128_Met132del | |
| XR_001736952.2:n.1143_1157del | ||
| NM_000748.3:c.891_905del MANE Select | NP_000739.1:p.Gly298_Met302del |