Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215867241_215867242insACA , CM000663.2:g.215867241_215867242insACA | GRCh38 |
| NC_000001.10:g.216040583_216040584insACA , CM000663.1:g.216040583_216040584insACA | GRCh37 |
| NC_000001.9:g.214107206_214107207insACA | NCBI36 |
| NG_009497.1:g.561155_561156insTGT | |
| NG_009497.2:g.561207_561208insTGT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.8682-72_8682-71insTGT MANE Select | ENSP00000305941.3:n.8682-72_8682-71insTGT | |
| ENST00000674083.1:c.8682-72_8682-71insTGT | ENSP00000501296.1:n.8682-72_8682-71insTGT | |
| ENST00000307340.7:c.8682-72_8682-71insTGT | ENSP00000305941.3:n.8682-72_8682-71insTGT | |
| NM_206933.2:c.8682-72_8682-71insTGT | NP_996816.2:n.8682-72_8682-71insTGT | |
| NM_206933.3:c.8682-72_8682-71insTGT | NP_996816.2:n.8682-72_8682-71insTGT | |
| NM_206933.4:c.8682-72_8682-71insTGT MANE Select | NP_996816.3:n.8682-72_8682-71insTGT |