ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.174729165_174729166delinsCA , CM000667.2:g.174729165_174729166delinsCA | GRCh38 |
| NC_000005.9:g.174156168_174156169delinsCA , CM000667.1:g.174156168_174156169delinsCA | GRCh37 |
| NC_000005.8:g.174088774_174088775delinsCA | NCBI36 |
| NG_008124.1:g.9594_9595delinsCA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000239243.7:c.386_387delinsCA MANE Select | ENSP00000239243.5:p.Met129Thr | |
| ENST00000239243.6:c.386_387delinsCA | ENSP00000239243.5:p.Met129Thr | |
| ENST00000507785.2:c.*10_*11delinsCA | ENSP00000427425.1:n.*10_*11delinsCA | |
| NM_002449.4:c.386_387delinsCA | NP_002440.2:p.Met129Thr | |
| NM_001363626.1:c.*10_*11delinsCA | NP_001350555.1:n.*10_*11delinsCA | |
| NM_002449.5:c.386_387delinsCA MANE Select | NP_002440.2:p.Met129Thr | |
| NM_001363626.2:c.*10_*11delinsCA | NP_001350555.1:n.*10_*11delinsCA |