Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.232546307_232546308insTT , CM000664.2:g.232546307_232546308insTT | GRCh38 |
| NC_000002.11:g.233411017_233411018insTT , CM000664.1:g.233411017_233411018insTT | GRCh37 |
| NC_000002.10:g.233119261_233119262insTT | NCBI36 |
| NG_012954.1:g.11581_11582insTT | |
| NG_012954.2:g.11616_11617insTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000408957.7:c.*1800_*1801insAA (TIGD1) MANE Select | ENSP00000386186.3:n.*1800_*1801insAA | |
| ENST00000651502.1:c.*591_*592insTT (CHRNG) MANE Select | ENSP00000498757.1:n.*591_*592insTT | |
| ENST00000389494.7:c.*591_*592insTT (CHRNG) | ENSP00000374145.3:n.*591_*592insTT | |
| NM_005199.4:c.*591_*592insTT (CHRNG) | NP_005190.4:n.*591_*592insTT | |
| NM_005199.5:c.*591_*592insTT (CHRNG) MANE Select | NP_005190.4:n.*591_*592insTT | |
| NM_145702.4:c.*1800_*1801insAA (TIGD1) MANE Select | NP_663748.1:n.*1800_*1801insAA |