Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.40097411_40097412insACA , CM000663.2:g.40097411_40097412insACA | GRCh38 |
| NC_000001.10:g.40563083_40563084insACA , CM000663.1:g.40563083_40563084insACA | GRCh37 |
| NC_000001.9:g.40335670_40335671insACA | NCBI36 |
| NG_009192.1:g.5059_5060insTGT , LRG_690:g.5059_5060insTGT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000433473.7:c.-174_-173insTGT | ENSP00000394863.3:n.-174_-173insTGT | |
| NM_000310.3:c.-174_-173insTGT , LRG_690t1:c.-174_-173insTGT | NP_000301.1:n.-174_-173insTGT | |
| NM_001142604.1:c.-174_-173insTGT | NP_001136076.1:n.-174_-173insTGT | |
| NM_001363695.1:c.-174_-173insTGT | NP_001350624.1:n.-174_-173insTGT |