Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.68429989_68429990insAGA , CM000663.2:g.68429989_68429990insAGA | GRCh38 |
| NC_000001.10:g.68895672_68895673insAGA , CM000663.1:g.68895672_68895673insAGA | GRCh37 |
| NC_000001.9:g.68668260_68668261insAGA | NCBI36 |
| NG_008472.1:g.24970_24971insTCT | |
| NG_008472.2:g.24970_24971insTCT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262340.6:c.1451-63_1451-62insTCT MANE Select | ENSP00000262340.5:n.1451-63_1451-62insTCT | |
| ENST00000262340.5:c.1451-63_1451-62insTCT | ENSP00000262340.5:n.1451-63_1451-62insTCT | |
| NM_000329.2:c.1451-63_1451-62insTCT | NP_000320.1:n.1451-63_1451-62insTCT | |
| XM_017002027.1:c.1175-63_1175-62insTCT | XP_016857516.1:n.1175-63_1175-62insTCT | |
| NM_000329.3:c.1451-63_1451-62insTCT MANE Select | NP_000320.1:n.1451-63_1451-62insTCT |