Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25007130_25007145delinsTGAAAGCTGGGTGTCG , CM000685.2:g.25007130_25007145delinsTGAAAGCTGGGTGTCG | GRCh38 |
| NC_000023.10:g.25025247_25025262delinsTGAAAGCTGGGTGTCG , CM000685.1:g.25025247_25025262delinsTGAAAGCTGGGTGTCG | GRCh37 |
| NC_000023.9:g.24935168_24935183delinsTGAAAGCTGGGTGTCG | NCBI36 |
| NG_008281.1:g.13804_13819delinsCGACACCCAGCTTTCA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000379044.5:c.1414_1429delinsCGACACCCAGCTTTCA MANE Select | ENSP00000368332.4:p.Arg472= | |
| ENST00000637993.1:c.27_42delinsCGACACCCAGCTTTCA | ||
| ENST00000379044.4:c.1414_1429delinsCGACACCCAGCTTTCA | ENSP00000368332.4:p.Arg472= | |
| NM_139058.2:c.1414_1429delinsCGACACCCAGCTTTCA | NP_620689.1:p.Arg472= | |
| NM_139058.3:c.1414_1429delinsCGACACCCAGCTTTCA MANE Select | NP_620689.1:p.Arg472= |