Linked Data
dbSNP Id:
rs1708216125
gnomAD v3:
1-15446014-T-TCATTCATG
gnomAD v4:
1-15446014-T-TCATTCATG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.15446017_15446018insTCATGCAT , CM000663.2:g.15446017_15446018insTCATGCAT | GRCh38 |
| NC_000001.10:g.15772512_15772513insTCATGCAT , CM000663.1:g.15772512_15772513insTCATGCAT | GRCh37 |
| NC_000001.9:g.15645099_15645100insTCATGCAT | NCBI36 |
| NG_009253.1:g.12575_12576insTCATGCAT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375949.5:c.792+268_792+269insTCATGCAT MANE Select | ENSP00000365116.4:n.792+268_792+269insTCATGCAT | |
| ENST00000375943.6:c.*246+268_*246+269insTCATGCAT | ENSP00000365110.2:n.*246+268_*246+269insTCATGCAT | |
| ENST00000375949.4:c.792+268_792+269insTCATGCAT | ENSP00000365116.4:n.792+268_792+269insTCATGCAT | |
| ENST00000483406.1:n.556+268_556+269insTCATGCAT | ||
| NM_007272.2:c.792+268_792+269insTCATGCAT | NP_009203.2:n.792+268_792+269insTCATGCAT | |
| XM_011540550.1:c.646+268_646+269insTCATGCAT | XP_011538852.1:n.646+268_646+269insTCATGCAT | |
| NM_007272.3:c.792+268_792+269insTCATGCAT MANE Select | NP_009203.2:n.792+268_792+269insTCATGCAT |