Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.21002320_21002321delinsGA , CM000664.2:g.21002320_21002321delinsGA | GRCh38 |
| NC_000002.11:g.21225192_21225193delinsGA , CM000664.1:g.21225192_21225193delinsGA | GRCh37 |
| NC_000002.10:g.21078697_21078698delinsGA | NCBI36 |
| NG_011793.1:g.46753_46754delinsTC |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000233242.5:c.13101_13102delinsTC MANE Select | ENSP00000233242.1:p.Leu4367= | |
| ENST00000616098.4:c.13099_13100delinsTC | ENSP00000477990.1:n.13099_13100delinsTC | |
| NM_000384.2:c.13101_13102delinsTC | NP_000375.2:p.Leu4367= | |
| XM_011532809.1:c.5870-3048_5870-3047delinsTC | XP_011531111.1:n.5870-3048_5870-3047delin... | |
| NM_000384.3:c.13101_13102delinsTC MANE Select | NP_000375.3:p.Leu4367= |