Linked Data
dbSNP Id:
rs1733752058
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1444452_1444453del , CM000667.2:g.1444452_1444453del | GRCh38 |
| NC_000005.9:g.1444567_1444568del , CM000667.1:g.1444567_1444568del | GRCh37 |
| NC_000005.8:g.1497567_1497568del | NCBI36 |
| NG_015885.1:g.5977_5978del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270349.12:c.-46+896_-46+897del MANE Select | ENSP00000270349.9:n.-46+896_-46+897del | |
| ENST00000270349.11:c.-46+896_-46+897del | ENSP00000270349.9:n.-46+896_-46+897del | |
| NM_001044.4:c.-46+896_-46+897del | NP_001035.1:n.-46+896_-46+897del | |
| NM_001044.5:c.-46+896_-46+897del MANE Select | NP_001035.1:n.-46+896_-46+897del |