Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.31667344_31667346del , CM000683.2:g.31667344_31667346del | GRCh38 |
| NC_000021.8:g.33039657_33039659del , CM000683.1:g.33039657_33039659del | GRCh37 |
| NC_000021.7:g.31961528_31961530del | NCBI36 |
| NG_008689.1:g.12723_12725del , LRG_652:g.12723_12725del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270142.11:c.326_328del MANE Select | ENSP00000270142.7:p.Gly109del | |
| ENST00000270142.10:c.326_328del | ENSP00000270142.6:p.Gly109del | |
| ENST00000389995.4:c.269_271del | ENSP00000374645.4:p.Gly90del | |
| ENST00000470944.1:n.1254_1256del | ||
| NM_000454.4:c.326_328del , LRG_652t1:c.326_328del | NP_000445.1:p.Gly109del | |
| NM_000454.5:c.326_328del MANE Select | NP_000445.1:p.Gly109del |