Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149978100_149978101delinsAT , CM000667.2:g.149978100_149978101delinsAT | GRCh38 |
| NC_000005.9:g.149357663_149357664delinsAT , CM000667.1:g.149357663_149357664delinsAT | GRCh37 |
| NC_000005.8:g.149337856_149337857delinsAT | NCBI36 |
| NG_007147.2:g.19218_19219delinsAT , LRG_684:g.19218_19219delinsAT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000690410.1:n.680_681delinsAT | ||
| ENST00000286298.5:c.448_449delinsAT MANE Select | ENSP00000286298.4:p.Ile150= | |
| ENST00000286298.4:c.448_449delinsAT | ENSP00000286298.4:p.Ile150= | |
| ENST00000503336.1:c.121_122delinsAT | ENSP00000426053.1:p.Ile41= | |
| NM_000112.3:c.448_449delinsAT , LRG_684t1:c.448_449delinsAT | NP_000103.2:p.Ile150= | |
| XM_017009191.2:c.448_449delinsAT | XP_016864680.1:p.Ile150= | |
| NM_000112.4:c.448_449delinsAT MANE Select | NP_000103.2:p.Ile150= |