Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.117835543_117835544delinsAT , CM000670.2:g.117835543_117835544delinsAT | GRCh38 |
| NC_000008.10:g.118847782_118847783delinsAT , CM000670.1:g.118847782_118847783delinsAT | GRCh37 |
| NC_000008.9:g.118916963_118916964delinsAT | NCBI36 |
| NG_007455.2:g.281276_281277delinsAT , LRG_493:g.281276_281277delinsAT |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000127.3:c.1064_1065delinsAT MANE Select | NP_000118.2:p.Cys355Tyr |
| ENST00000378204.7:c.1064_1065delinsAT MANE Select | ENSP00000367446.3:p.Cys355Tyr |
| NM_000127.2:c.1064_1065delinsAT , LRG_493t1:c.1064_1065delinsAT | NP_000118.2:p.Cys355Tyr |
| ENST00000378204.6:c.1064_1065delinsAT | ENSP00000367446.2:p.Cys355Tyr |
| ENST00000436216.1:c.432_433delinsAT | |
| ENST00000436216.2:c.432_433delinsAT | |
| ENST00000437196.1:c.81_82delinsAT | ENSP00000407299.1:p.Arg28Cys |
| ENST00000684189.1:n.531_532delinsAT |