Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.143321362_143321367delinsCAGCCT , CM000669.2:g.143321362_143321367delinsCAGCCT | GRCh38 |
| NC_000007.13:g.143018455_143018460delinsCAGCCT , CM000669.1:g.143018455_143018460delinsCAGCCT | GRCh37 |
| NC_000007.12:g.142728577_142728582delinsCAGCCT | NCBI36 |
| NG_009815.1:g.10237_10242delinsCAGCCT | |
| NG_009815.2:g.10237_10242delinsCAGCCT |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000083.2:c.434-3_436delinsCAGCCT | |
| NM_000083.3:c.434-3_436delinsCAGCCT | |
| NR_046453.1:n.521-3_523delinsCAGCCT | |
| NR_046453.2:n.536-3_538delinsCAGCCT | |
| ENST00000343257.6:c.434-3_436delinsCAGCCT | |
| ENST00000343257.7:c.434-3_436delinsCAGCCT | |
| ENST00000432192.6:c.202-3_204delinsCAGCCT | |
| ENST00000650516.1:c.434-3_436delinsCAGCCT | |
| ENST00000650516.2:c.434-3_436delinsCAGCCT | |
| XM_011515781.1:c.434-3_436delinsCAGCCT | |
| XM_017011739.1:c.141-3_143delinsCAGCCT | |
| XM_017011740.1:c.141-3_143delinsCAGCCT |