Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.152309014_152309015delinsTG , CM000663.2:g.152309014_152309015delinsTG | GRCh38 |
| NC_000001.10:g.152281490_152281491delinsTG , CM000663.1:g.152281490_152281491delinsTG | GRCh37 |
| NC_000001.9:g.150548114_150548115delinsTG | NCBI36 |
| NG_016190.1:g.21189_21190delinsCA , LRG_1028:g.21189_21190delinsCA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368799.2:c.5871_5872delinsCA MANE Select | ENSP00000357789.1:p.Gly1958Arg | |
| ENST00000368799.1:c.5871_5872delinsCA | ENSP00000357789.1:p.Gly1958Arg | |
| NM_002016.1:c.5871_5872delinsCA , LRG_1028t1:c.5871_5872delinsCA | NP_002007.1:p.Gly1958Arg | |
| XM_011509329.1:c.5871_5872delinsCA | XP_011507631.1:p.Gly1958Arg | |
| NM_002016.2:c.5871_5872delinsCA MANE Select | NP_002007.1:p.Gly1958Arg |