Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.37966128_37966129insCT , CM000670.2:g.37966128_37966129insCT | GRCh38 |
| NC_000008.10:g.37823646_37823647insCT , CM000670.1:g.37823646_37823647insCT | GRCh37 |
| NC_000008.9:g.37942803_37942804insCT | NCBI36 |
| NG_011936.1:g.5538_5539insAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000345060.5:c.341_342insAG MANE Select | ENSP00000343782.3:p.Ser115AlafsTer8 | |
| ENST00000520341.2:n.469_470insAG | ||
| ENST00000345060.4:c.341_342insAG | ENSP00000343782.3:p.Ser115AlafsTer8 | |
| ENST00000614635.1:c.341_342insAG | ENSP00000480325.1:p.Ser115AlafsTer8 | |
| NM_000025.2:c.341_342insAG | NP_000016.1:p.Ser115AlafsTer8 | |
| NM_000025.3:c.341_342insAG MANE Select | NP_000016.1:p.Ser115AlafsTer8 |