Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.24800051_24800052insTCAACCCCCGCAT , CM000666.2:g.24800051_24800052insTCAACCCCCGCAT | GRCh38 |
| NC_000004.11:g.24801673_24801674insTCAACCCCCGCAT , CM000666.1:g.24801673_24801674insTCAACCCCCGCAT | GRCh37 |
| NC_000004.10:g.24410771_24410772insTCAACCCCCGCAT | NCBI36 |
| NG_012213.1:g.9589_9590insTCAACCCCCGCAT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382120.4:c.530_531insTCAACCCCCGCAT MANE Select | ENSP00000371554.3:p.Val178GlnfsTer? | |
| ENST00000382120.3:c.530_531insTCAACCCCCGCAT | ENSP00000371554.3:p.Val178GlnfsTer? | |
| NM_003102.2:c.530_531insTCAACCCCCGCAT | NP_003093.2:p.Val178GlnfsTer? | |
| XR_427488.1:n.720_721insTCAACCCCCGCAT | ||
| NM_003102.3:c.530_531insTCAACCCCCGCAT | NP_003093.2:p.Val178GlnfsTer? | |
| NM_003102.4:c.530_531insTCAACCCCCGCAT MANE Select | NP_003093.2:p.Val178GlnfsTer? |