Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.114044180_114044181insATC , CM000672.2:g.114044180_114044181insATC | GRCh38 |
| NC_000010.10:g.115803939_115803940insATC , CM000672.1:g.115803939_115803940insATC | GRCh37 |
| NC_000010.9:g.115793929_115793930insATC | NCBI36 |
| NG_012187.1:g.5134_5135insATC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369295.4:c.48_49insATC MANE Select | ENSP00000358301.2:p.Leu16_Ser17insIle | |
| ENST00000369295.3:c.48_49insATC | ENSP00000358301.2:p.Leu16_Ser17insIle | |
| NM_000684.2:c.48_49insATC | NP_000675.1:p.Leu16_Ser17insIle | |
| NM_000684.3:c.48_49insATC MANE Select | NP_000675.1:p.Leu16_Ser17insIle |