Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.37966101_37966102insT , CM000670.2:g.37966101_37966102insT | GRCh38 |
| NC_000008.10:g.37823619_37823620insT , CM000670.1:g.37823619_37823620insT | GRCh37 |
| NC_000008.9:g.37942776_37942777insT | NCBI36 |
| NG_011936.1:g.5565_5566insA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000345060.5:c.368_369insA MANE Select | ENSP00000343782.3:p.Ser124GlnfsTer? | |
| ENST00000520341.2:n.496_497insA | ||
| ENST00000345060.4:c.368_369insA | ENSP00000343782.3:p.Ser124GlnfsTer? | |
| ENST00000614635.1:c.368_369insA | ENSP00000480325.1:p.Ser124GlnfsTer? | |
| NM_000025.2:c.368_369insA | NP_000016.1:p.Ser124GlnfsTer? | |
| NM_000025.3:c.368_369insA MANE Select | NP_000016.1:p.Ser124GlnfsTer? |