Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26204197_26204200dup , CM000664.2:g.26204197_26204200dup | GRCh38 |
| NC_000002.11:g.26427066_26427069dup , CM000664.1:g.26427066_26427069dup | GRCh37 |
| NC_000002.10:g.26280570_26280573dup | NCBI36 |
| NG_007121.1:g.45424_45427dup | |
| NG_007121.2:g.45425_45428dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380649.8:c.1086-1_1088dup | ||
| ENST00000492433.2:c.1086-1_1088dup | ||
| ENST00000643057.1:c.*977-1_*979dup | ||
| ENST00000643063.1:c.*132-1_*134dup | ||
| ENST00000643233.1:c.*977-1_*979dup | ||
| ENST00000644428.1:c.1086-1_1088dup | ||
| ENST00000645274.1:c.981-1_983dup | ||
| ENST00000646031.1:c.445-1_447dup | ||
| ENST00000646483.1:c.952-1_954dup | ||
| ENST00000380649.7:c.1086-1_1088dup | ||
| NM_000182.4:c.1086-1_1088dup | ||
| NM_000182.5:c.1086-1_1088dup |