Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154903988_154903990delinsGAT , CM000685.2:g.154903988_154903990delinsGAT | GRCh38 |
| NC_000023.10:g.154132263_154132265delinsGAT , CM000685.1:g.154132263_154132265delinsGAT | GRCh37 |
| NC_000023.9:g.153785457_153785459delinsGAT | NCBI36 |
| NG_011403.1:g.123734_123736delinsATC | |
| NG_011403.2:g.123734_123736delinsATC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.5914_5916delinsATC MANE Select | ENSP00000353393.4:p.Ile1972= | |
| ENST00000360256.8:c.5914_5916delinsATC | ENSP00000353393.4:p.Ile1972= | |
| NM_000132.3:c.5914_5916delinsATC | NP_000123.1:p.Ile1972= | |
| XM_011531126.1:c.5809_5811delinsATC | XP_011529428.1:p.Ile1937= | |
| NM_000132.4:c.5914_5916delinsATC MANE Select | NP_000123.1:p.Ile1972= |