Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1004897_1004898insCGCT , CM000681.2:g.1004897_1004898insCGCT | GRCh38 |
| NC_000019.9:g.1004896_1004897insCGCT , CM000681.1:g.1004896_1004897insCGCT | GRCh37 |
| NC_000019.8:g.955896_955897insCGCT | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_138690.3:c.1396_1397insCGCT MANE Select | NP_619635.1:p.Gly466AlafsTer18 |
| ENST00000234389.3:c.1396_1397insCGCT MANE Select | ENSP00000234389.3:p.Gly466AlafsTer18 |
| NM_138690.1:c.1396_1397insCGCT | NP_619635.1:p.Gly466AlafsTer18 |
| NM_138690.2:c.1396_1397insCGCT | NP_619635.1:p.Gly466AlafsTer18 |
| ENST00000588335.1:n.146_147insCGCT | |
| XM_017026243.2:c.-183_-182insCGCT | XP_016881732.1:n.-183_-182insCGCT |