Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.21001697_21001700delinsAAAG , CM000664.2:g.21001697_21001700delinsAAAG | GRCh38 |
| NC_000002.11:g.21224569_21224572delinsAAAG , CM000664.1:g.21224569_21224572delinsAAAG | GRCh37 |
| NC_000002.10:g.21078074_21078077delinsAAAG | NCBI36 |
| NG_011793.1:g.47374_47377delinsCTTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233242.5:c.*30_*33delinsCTTT MANE Select | ENSP00000233242.1:n.*30_*33delinsCTTT | |
| ENST00000616098.4:c.13720_13723delinsCTTT | ENSP00000477990.1:n.13720_13723delinsCTTT | |
| NM_000384.2:c.*30_*33delinsCTTT | NP_000375.2:n.*30_*33delinsCTTT | |
| XM_011532809.1:c.5870-2427_5870-2424delinsCTTT | XP_011531111.1:n.5870-2427_5870-2424delinsCTTT | |
| NM_000384.3:c.*30_*33delinsCTTT MANE Select | NP_000375.3:n.*30_*33delinsCTTT |