Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.37965949_37965950delinsAT , CM000670.2:g.37965949_37965950delinsAT | GRCh38 |
| NC_000008.10:g.37823467_37823468delinsAT , CM000670.1:g.37823467_37823468delinsAT | GRCh37 |
| NC_000008.9:g.37942624_37942625delinsAT | NCBI36 |
| NG_011936.1:g.5717_5718delinsAT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000345060.5:c.520_521delinsAT MANE Select | ENSP00000343782.3:p.Met174= | |
| ENST00000520341.2:n.648_649delinsAT | ||
| ENST00000647937.1:c.4_5delinsAT | ENSP00000497740.1:p.Met2= | |
| ENST00000345060.4:c.520_521delinsAT | ENSP00000343782.3:p.Met174= | |
| ENST00000614635.1:c.520_521delinsAT | ENSP00000480325.1:p.Met174= | |
| NM_000025.2:c.520_521delinsAT | NP_000016.1:p.Met174= | |
| NM_000025.3:c.520_521delinsAT MANE Select | NP_000016.1:p.Met174= |