Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.21002200_21002203delinsCTAT , CM000664.2:g.21002200_21002203delinsCTAT | GRCh38 |
| NC_000002.11:g.21225072_21225075delinsCTAT , CM000664.1:g.21225072_21225075delinsCTAT | GRCh37 |
| NC_000002.10:g.21078577_21078580delinsCTAT | NCBI36 |
| NG_011793.1:g.46871_46874delinsATAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233242.5:c.13219_13222delinsATAG MANE Select | ENSP00000233242.1:p.Ile4407= | |
| ENST00000616098.4:c.13217_13220delinsATAG | ENSP00000477990.1:n.13217_13220delinsATAG | |
| NM_000384.2:c.13219_13222delinsATAG | NP_000375.2:p.Ile4407= | |
| XM_011532809.1:c.5870-2930_5870-2927delinsATAG | XP_011531111.1:n.5870-2930_5870-2927delinsATAG | |
| NM_000384.3:c.13219_13222delinsATAG MANE Select | NP_000375.3:p.Ile4407= |