Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.152649207_152649208delinsAC , CM000669.2:g.152649207_152649208delinsAC | GRCh38 |
| NC_000007.13:g.152346292_152346293delinsAC , CM000669.1:g.152346292_152346293delinsAC | GRCh37 |
| NC_000007.12:g.151977225_151977226delinsAC | NCBI36 |
| NG_027988.1:g.31958_31959delinsGT | |
| NG_027988.2:g.31958_31959delinsGT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698506.1:c.109_110delinsGT | ENSP00000513758.1:p.Val37= | |
| ENST00000359321.2:c.277_278delinsGT MANE Select | ENSP00000352271.1:p.Val93= | |
| ENST00000359321.1:c.277_278delinsGT | ENSP00000352271.1:p.Val93= | |
| ENST00000495707.1:n.299_300delinsGT | ||
| NM_005431.1:c.277_278delinsGT | NP_005422.1:p.Val93= | |
| NM_005431.2:c.277_278delinsGT MANE Select | NP_005422.1:p.Val93= |