Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.169541915_169541920delinsATGTGT , CM000663.2:g.169541915_169541920delinsATGTGT | GRCh38 |
| NC_000001.10:g.169511153_169511158delinsATGTGT , CM000663.1:g.169511153_169511158delinsATGTGT | GRCh37 |
| NC_000001.9:g.167777777_167777782delinsATGTGT | NCBI36 |
| NG_011806.1:g.49612_49617delinsACACAT , LRG_553:g.49612_49617delinsACACAT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367797.9:c.3170_3175delinsACACAT MANE Select | ENSP00000356771.3:p.Asn1057= | |
| ENST00000367796.3:c.3185_3190delinsACACAT | ENSP00000356770.3:p.Asn1062= | |
| ENST00000367797.7:c.3170_3175delinsACACAT | ENSP00000356771.3:p.Asn1057= | |
| NM_000130.4:c.3170_3175delinsACACAT , LRG_553t1:c.3170_3175delinsACACAT | NP_000121.2:p.Asn1057= | |
| XM_017000660.2:c.2759_2764delinsACACAT | XP_016856149.1:p.Asn920= | |
| NM_000130.5:c.3170_3175delinsACACAT MANE Select | NP_000121.2:p.Asn1057= |