Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.114713909_114713910delinsTA , CM000663.2:g.114713909_114713910delinsTA | GRCh38 |
| NC_000001.10:g.115256530_115256531delinsTA , CM000663.1:g.115256530_115256531delinsTA | GRCh37 |
| NC_000001.9:g.115058053_115058054delinsTA | NCBI36 |
| NG_007572.1:g.7985_7986delinsTA , LRG_92:g.7985_7986delinsTA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369535.5:c.180_181delinsTA MANE Select | ENSP00000358548.4:p.Gln61Lys | |
| ENST00000369535.4:c.180_181delinsTA | ENSP00000358548.4:p.Gln61Lys | |
| NM_002524.4:c.180_181delinsTA | NP_002515.1:p.Gln61Lys | |
| NM_002524.5:c.180_181delinsTA MANE Select | NP_002515.1:p.Gln61Lys |