Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240869408_240869417delinsAGGCCTCCCT , CM000664.2:g.240869408_240869417delinsAGGCCTCCCT | GRCh38 |
| NC_000002.11:g.241808825_241808834delinsAGGCCTCCCT , CM000664.1:g.241808825_241808834delinsAGGCCTCCCT | GRCh37 |
| NC_000002.10:g.241457498_241457507delinsAGGCCTCCCT | NCBI36 |
| NG_008005.1:g.5664_5673delinsAGGCCTCCCT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.4:c.358+46_358+55delinsAGGCCTCCCT MANE Select | ENSP00000302620.3:n.358+46_358+55delinsAGGCCTCCCT | |
| ENST00000307503.3:c.358+46_358+55delinsAGGCCTCCCT | ENSP00000302620.3:n.358+46_358+55delinsAGGCCTCCCT | |
| ENST00000472436.1:n.378+46_378+55delinsAGGCCTCCCT | ||
| NM_000030.2:c.358+46_358+55delinsAGGCCTCCCT | NP_000021.1:n.358+46_358+55delinsAGGCCTCCCT | |
| XR_924060.1:n.405+816_405+825delinsAGGGAGGCCT | ||
| NM_000030.3:c.358+46_358+55delinsAGGCCTCCCT MANE Select | NP_000021.1:n.358+46_358+55delinsAGGCCTCCCT |