Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.68429989_68429990insACA , CM000663.2:g.68429989_68429990insACA | GRCh38 |
| NC_000001.10:g.68895672_68895673insACA , CM000663.1:g.68895672_68895673insACA | GRCh37 |
| NC_000001.9:g.68668260_68668261insACA | NCBI36 |
| NG_008472.1:g.24970_24971insTGT | |
| NG_008472.2:g.24970_24971insTGT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262340.6:c.1451-63_1451-62insTGT MANE Select | ENSP00000262340.5:n.1451-63_1451-62insTGT | |
| ENST00000262340.5:c.1451-63_1451-62insTGT | ENSP00000262340.5:n.1451-63_1451-62insTGT | |
| NM_000329.2:c.1451-63_1451-62insTGT | NP_000320.1:n.1451-63_1451-62insTGT | |
| XM_017002027.1:c.1175-63_1175-62insTGT | XP_016857516.1:n.1175-63_1175-62insTGT | |
| NM_000329.3:c.1451-63_1451-62insTGT MANE Select | NP_000320.1:n.1451-63_1451-62insTGT |