Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.18400736_18400741delinsAATTAT , CM000670.2:g.18400736_18400741delinsAATTAT | GRCh38 |
| NC_000008.10:g.18258246_18258251delinsAATTAT , CM000670.1:g.18258246_18258251delinsAATTAT | GRCh37 |
| NC_000008.9:g.18302526_18302531delinsAATTAT | NCBI36 |
| NG_012246.1:g.14492_14497delinsAATTAT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000286479.4:c.733_738delinsAATTAT MANE Select | ENSP00000286479.3:p.Asn245= | |
| ENST00000286479.3:c.733_738delinsAATTAT | ENSP00000286479.3:p.Asn245= | |
| ENST00000520116.1:c.343_348delinsAATTAT | ENSP00000428416.1:p.Asn115= | |
| NM_000015.2:c.733_738delinsAATTAT | NP_000006.2:p.Asn245= | |
| XM_011544358.1:c.733_738delinsAATTAT | XP_011542660.1:p.Asn245= | |
| XM_017012938.1:c.733_738delinsAATTAT | XP_016868427.1:p.Asn245= | |
| NM_000015.3:c.733_738delinsAATTAT MANE Select | NP_000006.2:p.Asn245= |