Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.152304645_152304646delinsTG , CM000663.2:g.152304645_152304646delinsTG | GRCh38 |
| NC_000001.10:g.152277121_152277122delinsTG , CM000663.1:g.152277121_152277122delinsTG | GRCh37 |
| NC_000001.9:g.150543745_150543746delinsTG | NCBI36 |
| NG_016190.1:g.25558_25559delinsCA , LRG_1028:g.25558_25559delinsCA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368799.2:c.10240_10241delinsCA MANE Select | ENSP00000357789.1:p.His3414= | |
| ENST00000368799.1:c.10240_10241delinsCA | ENSP00000357789.1:p.His3414= | |
| NM_002016.1:c.10240_10241delinsCA , LRG_1028t1:c.10240_10241delinsCA | NP_002007.1:p.His3414= | |
| XM_011509329.1:c.9109-813_9109-812delinsCA | XP_011507631.1:n.9109-813_9109-812delinsCA | |
| NM_002016.2:c.10240_10241delinsCA MANE Select | NP_002007.1:p.His3414= |