Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.232546327_232546328dup , CM000664.2:g.232546327_232546328dup | GRCh38 |
| NC_000002.11:g.233411037_233411038dup , CM000664.1:g.233411037_233411038dup | GRCh37 |
| NC_000002.10:g.233119281_233119282dup | NCBI36 |
| NG_012954.1:g.11601_11602dup | |
| NG_012954.2:g.11636_11637dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000408957.7:c.*1797_*1798dup (TIGD1) MANE Select | ENSP00000386186.3:n.*1797_*1798dup | |
| ENST00000651502.1:c.*611_*612dup (CHRNG) MANE Select | ENSP00000498757.1:n.*611_*612dup | |
| ENST00000389494.7:c.*611_*612dup (CHRNG) | ENSP00000374145.3:n.*611_*612dup | |
| NM_005199.5:c.*611_*612dup (CHRNG) MANE Select | NP_005190.4:n.*611_*612dup | |
| NM_145702.4:c.*1797_*1798dup (TIGD1) MANE Select | NP_663748.1:n.*1797_*1798dup |