Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.152304545_152304548delinsTCCC , CM000663.2:g.152304545_152304548delinsTCCC | GRCh38 |
| NC_000001.10:g.152277021_152277024delinsTCCC , CM000663.1:g.152277021_152277024delinsTCCC | GRCh37 |
| NC_000001.9:g.150543645_150543648delinsTCCC | NCBI36 |
| NG_016190.1:g.25656_25659delinsGGGA , LRG_1028:g.25656_25659delinsGGGA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368799.2:c.10338_10341delinsGGGA MANE Select | ENSP00000357789.1:p.Gln3446= | |
| ENST00000368799.1:c.10338_10341delinsGGGA | ENSP00000357789.1:p.Gln3446= | |
| NM_002016.1:c.10338_10341delinsGGGA , LRG_1028t1:c.10338_10341delinsGGGA | NP_002007.1:p.Gln3446= | |
| XM_011509329.1:c.9109-715_9109-712delinsGGGA | XP_011507631.1:n.9109-715_9109-712delinsGGGA | |
| NM_002016.2:c.10338_10341delinsGGGA MANE Select | NP_002007.1:p.Gln3446= |