Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.177992920_177992921delinsTA , CM000667.2:g.177992920_177992921delinsTA | GRCh38 |
| NC_000005.9:g.177419921_177419922delinsTA , CM000667.1:g.177419921_177419922delinsTA | GRCh37 |
| NC_000005.8:g.177352527_177352528delinsTA | NCBI36 |
| NG_015889.1:g.8322_8323delinsTA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308304.2:c.469_470delinsTA MANE Select | ENSP00000311290.2:p.Tyr157= | |
| NM_006261.4:c.469_470delinsTA | NP_006252.3:p.Tyr157= | |
| NM_006261.5:c.469_470delinsTA MANE Select | NP_006252.4:p.Tyr157= |