MaveDb:
Score
0.8564461355
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.90401385_90401386delinsTC , CM000676.2:g.90401385_90401386delinsTC | GRCh38 |
| NC_000014.8:g.90867729_90867730delinsTC , CM000676.1:g.90867729_90867730delinsTC | GRCh37 |
| NC_000014.7:g.89937482_89937483delinsTC | NCBI36 |
| NG_013338.1:g.9403_9404delinsTC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356978.9:c.161_162delinsTC MANE Select | ENSP00000349467.4:p.Asn54Ile | |
| ENST00000447653.8:c.53_54delinsTC | ENSP00000403491.4:p.Asn18Ile | |
| ENST00000659177.1:c.53_54delinsTC | ENSP00000499421.1:p.Asn18Ile | |
| ENST00000663135.1:c.53_54delinsTC | ENSP00000499498.1:p.Asn18Ile | |
| ENST00000356978.8:c.161_162delinsTC | ENSP00000349467.4:p.Asn54Ile | |
| ENST00000447653.7:c.164_165delinsTC | ENSP00000403491.3:p.Asn55Ile | |
| ENST00000544280.6:c.53_54delinsTC | ENSP00000442853.2:p.Asn18Ile | |
| ENST00000553422.1:c.53_54delinsTC | ENSP00000450425.1:p.Asn18Ile | |
| ENST00000553542.5:c.53_54delinsTC | ENSP00000450829.1:p.Asn18Ile | |
| ENST00000553630.1:c.161_162delinsTC | ENSP00000451646.1:p.Asn54Ile | |
| ENST00000553964.5:n.2291_2292delinsTC | ||
| ENST00000553995.5:n.360_361delinsTC | ||
| ENST00000555267.1:n.245_246delinsTC | ||
| ENST00000556757.5:n.360_361delinsTC | ||
| ENST00000557020.5:c.53_54delinsTC | ENSP00000451062.1:p.Asn18Ile | |
| ENST00000626705.2:c.161_162delinsTC | ENSP00000486402.1:p.Asn54Ile | |
| NM_006888.4:c.161_162delinsTC | NP_008819.1:p.Asn54Ile | |
| XM_006720258.2:c.164_165delinsTC | XP_006720321.1:p.Asn55Ile | |
| NM_001363669.1:c.53_54delinsTC | NP_001350598.1:p.Asn18Ile | |
| NM_001363670.1:c.164_165delinsTC | NP_001350599.1:p.Asn55Ile | |
| NM_006888.5:c.161_162delinsTC | NP_008819.1:p.Asn54Ile | |
| NM_006888.6:c.161_162delinsTC MANE Select | NP_008819.1:p.Asn54Ile | |
| NM_001363669.2:c.53_54delinsTC | NP_001350598.1:p.Asn18Ile | |
| NM_001363670.2:c.164_165delinsTC | NP_001350599.1:p.Asn55Ile |