dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.42929863_42929874delinsTC , CM000663.2:g.42929863_42929874delinsTC | GRCh38 |
| NC_000001.10:g.43395534_43395545delinsTC , CM000663.1:g.43395534_43395545delinsTC | GRCh37 |
| NC_000001.9:g.43168121_43168132delinsTC | NCBI36 |
| NG_008232.1:g.34303_34314delinsGA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000426263.10:c.678_679+10delinsGA | ||
| ENST00000669445.1:c.55_56+10delinsGA | ||
| ENST00000674765.1:c.678_679+10delinsGA | ||
| ENST00000675112.1:n.701_702+10delinsGA | ||
| ENST00000676254.1:n.1127_1128+10delinsGA | ||
| ENST00000426263.7:c.678_679+10delinsGA | ||
| ENST00000439722.2:c.557_558+10delinsGA | ||
| ENST00000475162.3:c.415+752_415+763delinsGA | ||
| ENST00000630287.2:c.517-94_517-83delinsGA | ENSP00000486694.1:n.517-94_517-83delinsGA | |
| NM_006516.2:c.678_679+10delinsGA | ||
| NM_006516.3:c.678_679+10delinsGA | ||
| NM_006516.4:c.678_679+10delinsGA |