Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.2274948_2274954delinsAAAAAAG , CM000681.2:g.2274948_2274954delinsAAAAAAG | GRCh38 |
| NC_000019.9:g.2274947_2274953delinsAAAAAAG , CM000681.1:g.2274947_2274953delinsAAAAAAG | GRCh37 |
| NC_000019.8:g.2225947_2225953delinsAAAAAAG | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342063.5:c.*726_*732delinsCTTTTTT MANE Select | ENSP00000345102.3:n.*726_*732delinsCTTTTTT | |
| ENST00000342063.4:c.*726_*732delinsCTTTTTT | ENSP00000345102.3:n.*726_*732delinsCTTTTTT | |
| ENST00000621615.1:c.146+5204_146+5210delinsAAAAAAG | ENSP00000481965.1:n.146+5204_146+5210delinsAAAAAAG | |
| NM_198532.2:c.*726_*732delinsCTTTTTT | NP_940934.1:n.*726_*732delinsCTTTTTT | |
| NM_198532.3:c.*726_*732delinsCTTTTTT MANE Select | NP_940934.1:n.*726_*732delinsCTTTTTT |