Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149981242_149981243delinsAG , CM000667.2:g.149981242_149981243delinsAG | GRCh38 |
| NC_000005.9:g.149360805_149360806delinsAG , CM000667.1:g.149360805_149360806delinsAG | GRCh37 |
| NC_000005.8:g.149340998_149340999delinsAG | NCBI36 |
| NG_007147.2:g.22360_22361delinsAG , LRG_684:g.22360_22361delinsAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000286298.5:c.1649_1650delinsAG MANE Select | ENSP00000286298.4:p.Lys550= | |
| ENST00000286298.4:c.1649_1650delinsAG | ENSP00000286298.4:p.Lys550= | |
| ENST00000503336.1:c.372+2891_372+2892delinsAG | ENSP00000426053.1:n.372+2891_372+2892delinsAG | |
| NM_000112.3:c.1649_1650delinsAG , LRG_684t1:c.1649_1650delinsAG | NP_000103.2:p.Lys550= | |
| XM_017009191.2:c.1649_1650delinsAG | XP_016864680.1:p.Lys550= | |
| NM_000112.4:c.1649_1650delinsAG MANE Select | NP_000103.2:p.Lys550= |