Linked Data
dbSNP Id:
rs1175996299
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215675458_215675459insAGCCTCTTGCCCCAGGGGGGAGAAGTCTGGCT , CM000663.2:g.215675458_215675459insAGCCTCTTGCCCCAGGGGGGAGAAGTCTGGCT | GRCh38 |
| NC_000001.10:g.215848800_215848801insAGCCTCTTGCCCCAGGGGGGAGAAGTCTGGCT , CM000663.1:g.215848800_215848801insAGCCTCTTGCCCCAGGGGGGAGAAGTCTGGCT | GRCh37 |
| NC_000001.9:g.213915423_213915424insAGCCTCTTGCCCCAGGGGGGAGAAGTCTGGCT | NCBI36 |
| NG_009497.1:g.752938_752939insAGCCAGACTTCTCCCCCCTGGGGCAAGAGGCT | |
| NG_009497.2:g.752990_752991insAGCCAGACTTCTCCCCCCTGGGGCAAGAGGCT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.12452_12453insAGCCAGACTTCTCCCCCCTGGGGCAAGAGGCT MANE Select | ENSP00000305941.3:p.Asp4151GlufsTer27 | |
| ENST00000674083.1:c.12452_12453insAGCCAGACTTCTCCCCCCTGGGGCAAGAGGCT | ENSP00000501296.1:p.Asp4151GlufsTer27 | |
| ENST00000307340.7:c.12452_12453insAGCCAGACTTCTCCCCCCTGGGGCAAGAGGCT | ENSP00000305941.3:p.Asp4151GlufsTer27 | |
| NM_206933.2:c.12452_12453insAGCCAGACTTCTCCCCCCTGGGGCAAGAGGCT | NP_996816.2:p.Asp4151GlufsTer27 | |
| NM_206933.3:c.12452_12453insAGCCAGACTTCTCCCCCCTGGGGCAAGAGGCT | NP_996816.2:p.Asp4151GlufsTer27 | |
| NM_206933.4:c.12452_12453insAGCCAGACTTCTCCCCCCTGGGGCAAGAGGCT MANE Select | NP_996816.3:p.Asp4151GlufsTer27 |