Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.131890435_131890436insACTCTGG , CM000668.2:g.131890435_131890436insACTCTGG | GRCh38 |
| NC_000006.11:g.132211575_132211576insACTCTGG , CM000668.1:g.132211575_132211576insACTCTGG | GRCh37 |
| NC_000006.10:g.132253268_132253269insACTCTGG | NCBI36 |
| NG_008206.1:g.87420_87421insACTCTGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684674.1:n.1133_1134insACTCTGG | ||
| ENST00000647893.1:c.2702_2703insACTCTGG MANE Select | ENSP00000498074.1:p.Tyr901Ter | |
| ENST00000360971.6:c.2702_2703insACTCTGG | ENSP00000354238.2:p.Tyr901Ter | |
| ENST00000513998.5:c.*1539_*1540insACTCTGG | ENSP00000422424.1:n.*1539_*1540insACTCTGG | |
| NM_006208.2:c.2702_2703insACTCTGG | NP_006199.2:p.Tyr901Ter | |
| XM_011535896.1:c.1592_1593insACTCTGG | XP_011534198.1:p.Tyr531Ter | |
| NM_006208.3:c.2702_2703insACTCTGG MANE Select | NP_006199.2:p.Tyr901Ter |