Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.42763505_42763506delinsCG , CM000668.2:g.42763505_42763506delinsCG | GRCh38 |
| NC_000006.11:g.42731243_42731244delinsCG , CM000668.1:g.42731243_42731244delinsCG | GRCh37 |
| NC_000006.10:g.42839221_42839222delinsCG | NCBI36 |
| NG_054763.1:g.21548_21549delinsCG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000614467.4:c.-261+16482_-261+16483delinsCG | ENSP00000482211.1:n.-261+16482_-261+16483delinsCG | |
| XR_926809.1:n.919+3571_919+3572delinsCG | ||
| XR_926810.1:n.904+3571_904+3572delinsCG | ||
| XR_926811.1:n.1175+3571_1175+3572delinsCG | ||
| NM_001318819.1:c.-365+16482_-365+16483delinsCG | NP_001305748.1:n.-365+16482_-365+16483delinsCG | |
| NM_001318819.2:c.-365+16482_-365+16483delinsCG | NP_001305748.1:n.-365+16482_-365+16483delinsCG |