Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.[240869303_240869311dup;240869312G>A] , CM000664.2:g.[240869303_240869311dup;240869312G>A] | GRCh38 |
| NC_000002.11:g.[241808720_241808728dup;241808729G>A] , CM000664.1:g.[241808720_241808728dup;241808729G>A] | GRCh37 |
| NC_000002.10:g.[241457393_241457401dup;241457402G>A] | NCBI36 |
| NG_008005.1:g.[5559_5567dup;5568G>A] |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000307503.4:c.[299_307dup;308G>A] MANE Select | ENSP00000302620.3:p.[Val102_Gly103insValL... | |
| ENST00000307503.3:c.[299_307dup;308G>A] | ENSP00000302620.3:p.[Val102_Gly103insValL... | |
| ENST00000472436.1:n.[319_327dup;328G>A] | ||
| NM_000030.2:c.[299_307dup;308G>A] | NP_000021.1:p.[Val102_Gly103insValLeuVal;... | |
| XR_924060.1:n.[405+921C>T;405+922_405+930dup] | ||
| NM_000030.3:c.[299_307dup;308G>A] MANE Select | NP_000021.1:p.[Val102_Gly103insValLeuVal;... |