Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19967152_19967156delinsAACTC , CM000670.2:g.19967152_19967156delinsAACTC | GRCh38 |
| NC_000008.10:g.19824663_19824667delinsAACTC , CM000670.1:g.19824663_19824667delinsAACTC | GRCh37 |
| NC_000008.9:g.19868943_19868947delinsAACTC | NCBI36 |
| NG_008855.1:g.33082_33086delinsAACTC | |
| NG_008855.2:g.70436_70440delinsAACTC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650287.1:c.*1842_*1846delinsAACTC MANE Select | ENSP00000497642.1:n.*1842_*1846delinsAACTC | |
| ENST00000650478.1:c.2210_2214delinsAACTC | ENSP00000497560.1:n.2210_2214delinsAACTC | |
| ENST00000311322.8:c.*1842_*1846delinsAACTC | ENSP00000309757.6:n.*1842_*1846delinsAACTC | |
| NM_000237.2:c.*1842_*1846delinsAACTC | NP_000228.1:n.*1842_*1846delinsAACTC | |
| NM_000237.3:c.*1842_*1846delinsAACTC MANE Select | NP_000228.1:n.*1842_*1846delinsAACTC |