Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240869127_240869128delinsGA , CM000664.2:g.240869127_240869128delinsGA | GRCh38 |
| NC_000002.11:g.241808544_241808545delinsGA , CM000664.1:g.241808544_241808545delinsGA | GRCh37 |
| NC_000002.10:g.241457217_241457218delinsGA | NCBI36 |
| NG_008005.1:g.5383_5384delinsGA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000307503.4:c.166-43_166-42delinsGA MANE Select | ENSP00000302620.3:n.166-43_166-42delinsGA... | |
| ENST00000307503.3:c.166-43_166-42delinsGA | ENSP00000302620.3:n.166-43_166-42delinsGA... | |
| ENST00000472436.1:n.186-43_186-42delinsGA | ||
| NM_000030.2:c.166-43_166-42delinsGA | NP_000021.1:n.166-43_166-42delinsGA | |
| XR_924060.1:n.405+1105_405+1106delinsTC | ||
| NM_000030.3:c.166-43_166-42delinsGA MANE Select | NP_000021.1:n.166-43_166-42delinsGA |