Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23419710_23419713delinsAAAG , CM000676.2:g.23419710_23419713delinsAAAG | GRCh38 |
| NC_000014.8:g.23888919_23888922delinsAAAG , CM000676.1:g.23888919_23888922delinsAAAG | GRCh37 |
| NC_000014.7:g.22958759_22958762delinsAAAG | NCBI36 |
| NG_007884.1:g.20949_20952delinsCTTT , LRG_384:g.20949_20952delinsCTTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.3727-104_3727-101delinsCTTT MANE Select | ENSP00000347507.3:n.3727-104_3727-101delinsCTTT | |
| ENST00000355349.3:c.3727-104_3727-101delinsCTTT | ENSP00000347507.3:n.3727-104_3727-101delinsCTTT | |
| NM_000257.3:c.3727-104_3727-101delinsCTTT | NP_000248.2:n.3727-104_3727-101delinsCTTT | |
| XM_017021340.1:c.3727-104_3727-101delinsCTTT | XP_016876829.1:n.3727-104_3727-101delinsCTTT | |
| NM_000257.4:c.3727-104_3727-101delinsCTTT MANE Select | NP_000248.2:n.3727-104_3727-101delinsCTTT |