Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154903991_154903992insGATAATTAA , CM000685.2:g.154903991_154903992insGATAATTAA | GRCh38 |
| NC_000023.10:g.154132266_154132267insGATAATTAA , CM000685.1:g.154132266_154132267insGATAATTAA | GRCh37 |
| NC_000023.9:g.153785460_153785461insGATAATTAA | NCBI36 |
| NG_011403.1:g.123732_123733insTTAATTATC | |
| NG_011403.2:g.123732_123733insTTAATTATC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.5912_5913insTTAATTATC MANE Select | ENSP00000353393.4:p.Asn1972Ter | |
| ENST00000360256.8:c.5912_5913insTTAATTATC | ENSP00000353393.4:p.Asn1972Ter | |
| NM_000132.3:c.5912_5913insTTAATTATC | NP_000123.1:p.Asn1972Ter | |
| XM_011531126.1:c.5807_5808insTTAATTATC | XP_011529428.1:p.Asn1937Ter | |
| NM_000132.4:c.5912_5913insTTAATTATC MANE Select | NP_000123.1:p.Asn1972Ter |