Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.114713909_114713910delinsTC , CM000663.2:g.114713909_114713910delinsTC | GRCh38 |
| NC_000001.10:g.115256530_115256531delinsTC , CM000663.1:g.115256530_115256531delinsTC | GRCh37 |
| NC_000001.9:g.115058053_115058054delinsTC | NCBI36 |
| NG_007572.1:g.7985_7986delinsGA , LRG_92:g.7985_7986delinsGA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369535.5:c.180_181delinsGA MANE Select | ENSP00000358548.4:p.Gln61Lys | |
| ENST00000369535.4:c.180_181delinsGA | ENSP00000358548.4:p.Gln61Lys | |
| NM_002524.4:c.180_181delinsGA | NP_002515.1:p.Gln61Lys | |
| NM_002524.5:c.180_181delinsGA MANE Select | NP_002515.1:p.Gln61Lys |