Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.40354486_40354487insTCCTG , CM000666.2:g.40354486_40354487insTCCTG | GRCh38 |
| NC_000004.11:g.40356503_40356504insTCCTG , CM000666.1:g.40356503_40356504insTCCTG | GRCh37 |
| NC_000004.10:g.40051260_40051261insTCCTG | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310169.3:c.1406_1407insTCCTG MANE Select | ENSP00000312663.2:p.Met470ProfsTer3 | |
| ENST00000310169.2:c.1406_1407insTCCTG | ENSP00000312663.2:p.Met470ProfsTer3 | |
| NM_017581.3:c.1406_1407insTCCTG | NP_060051.2:p.Met470ProfsTer3 | |
| NM_017581.4:c.1406_1407insTCCTG MANE Select | NP_060051.2:p.Met470ProfsTer3 |