Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67940117_67940120delinsGTCA , CM000678.2:g.67940117_67940120delinsGTCA | GRCh38 |
| NC_000016.9:g.67974020_67974023delinsGTCA , CM000678.1:g.67974020_67974023delinsGTCA | GRCh37 |
| NC_000016.8:g.66531521_66531524delinsGTCA | NCBI36 |
| NG_009778.1:g.8993_8996delinsTGAC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264005.10:c.1107_1110delinsTGAC MANE Select | ENSP00000264005.5:p.Asp369= | |
| ENST00000264005.9:c.1107_1110delinsTGAC | ENSP00000264005.5:p.Asp369= | |
| ENST00000570369.5:c.156-46_156-43delinsTGAC | ||
| ENST00000573538.5:c.845_848delinsTGAC | ENSP00000463220.1:n.845_848delinsTGAC | |
| NM_000229.1:c.1107_1110delinsTGAC | NP_000220.1:p.Asp369= | |
| NM_000229.2:c.1107_1110delinsTGAC MANE Select | NP_000220.1:p.Asp369= |