Linked Data
dbSNP Id:
rs1235914477
gnomAD v2:
2-21233133-CAAT-C
gnomAD v3:
2-21010261-CAAT-C
gnomAD v4:
2-21010261-CAAT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.21010266_21010268del , CM000664.2:g.21010266_21010268del | GRCh38 |
| NC_000002.11:g.21233138_21233140del , CM000664.1:g.21233138_21233140del | GRCh37 |
| NC_000002.10:g.21086643_21086645del | NCBI36 |
| NG_011793.1:g.38810_38812del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233242.5:c.6604_6606del MANE Select | ENSP00000233242.1:p.Ile2202del | |
| ENST00000616098.4:c.6604_6606del | ENSP00000477990.1:p.Ile2202del | |
| NM_000384.2:c.6604_6606del | NP_000375.2:p.Ile2202del | |
| XM_011532809.1:c.5869+469_5869+471del | XP_011531111.1:n.5869+469_5869+471del | |
| NM_000384.3:c.6604_6606del MANE Select | NP_000375.3:p.Ile2202del |