ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219420943_219420944delinsGC , CM000664.2:g.219420943_219420944delinsGC | GRCh38 |
| NC_000002.11:g.220285665_220285666delinsGC , CM000664.1:g.220285665_220285666delinsGC | GRCh37 |
| NC_000002.10:g.219993909_219993910delinsGC | NCBI36 |
| NG_008043.1:g.7567_7568delinsGC , LRG_380:g.7567_7568delinsGC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000477226.6:n.487_488delinsGC | ||
| ENST00000683013.1:n.401_402delinsGC | ||
| ENST00000373960.4:c.1013_1014delinsGC MANE Select | ENSP00000363071.3:p.Leu338Arg | |
| ENST00000373960.3:c.1013_1014delinsGC | ENSP00000363071.3:p.Leu338Arg | |
| ENST00000477226.5:n.485_486delinsGC | ||
| ENST00000492726.1:n.408_409delinsGC | ||
| NM_001927.3:c.1013_1014delinsGC , LRG_380t1:c.1013_1014delinsGC | NP_001918.3:p.Leu338Arg | |
| NM_001927.4:c.1013_1014delinsGC MANE Select | NP_001918.3:p.Leu338Arg | |
| NM_001382708.1:c.1010_1011delinsGC | NP_001369637.1:p.Leu337Arg | |
| NM_001382709.1:c.736-541_736-540delinsGC | NP_001369638.1:n.736-541_736-540delinsGC | |
| NM_001382710.1:c.1013_1014delinsGC | NP_001369639.1:p.Leu338Arg | |
| NM_001382711.1:c.1013_1014delinsGC | NP_001369640.1:p.Leu338Arg | |
| NM_001382712.1:c.1013_1014delinsGC | NP_001369641.1:p.Leu338Arg | |
| NM_001382713.1:c.743_744delinsGC | NP_001369642.1:p.Leu248Arg |