MaveDb:
Score
0.9284965355
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.90404385_90404386delinsTT , CM000676.2:g.90404385_90404386delinsTT | GRCh38 |
| NC_000014.8:g.90870729_90870730delinsTT , CM000676.1:g.90870729_90870730delinsTT | GRCh37 |
| NC_000014.7:g.89940482_89940483delinsTT | NCBI36 |
| NG_013338.1:g.12403_12404delinsTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356978.9:c.292_293delinsTT MANE Select | ENSP00000349467.4:p.Asn98Phe | |
| ENST00000447653.8:c.184_185delinsTT | ENSP00000403491.4:p.Asn62Phe | |
| ENST00000659177.1:c.184_185delinsTT | ENSP00000499421.1:p.Asn62Phe | |
| ENST00000663135.1:c.184_185delinsTT | ENSP00000499498.1:p.Asn62Phe | |
| ENST00000356978.8:c.292_293delinsTT | ENSP00000349467.4:p.Asn98Phe | |
| ENST00000447653.7:c.295_296delinsTT | ENSP00000403491.3:p.Asn99Phe | |
| ENST00000544280.6:c.184_185delinsTT | ENSP00000442853.2:p.Asn62Phe | |
| ENST00000553422.1:c.178-14_178-13delinsTT | ENSP00000450425.1:n.178-14_178-13delinsTT | |
| ENST00000553542.5:c.184_185delinsTT | ENSP00000450829.1:p.Asn62Phe | |
| ENST00000553630.1:c.185_186delinsTT | ENSP00000451646.1:p.Gln62Leu | |
| ENST00000553964.5:n.2422_2423delinsTT | ||
| ENST00000554296.1:n.344_345delinsTT | ||
| ENST00000556721.1:n.218_219delinsTT | ||
| ENST00000557020.5:c.184_185delinsTT | ENSP00000451062.1:p.Asn62Phe | |
| ENST00000626705.2:c.166-72_166-71delinsTT | ENSP00000486402.1:n.166-72_166-71delinsTT | |
| NM_006888.4:c.292_293delinsTT | NP_008819.1:p.Asn98Phe | |
| XM_006720258.2:c.295_296delinsTT | XP_006720321.1:p.Asn99Phe | |
| NM_001363669.1:c.184_185delinsTT | NP_001350598.1:p.Asn62Phe | |
| NM_001363670.1:c.295_296delinsTT | NP_001350599.1:p.Asn99Phe | |
| NM_006888.5:c.292_293delinsTT | NP_008819.1:p.Asn98Phe | |
| NM_006888.6:c.292_293delinsTT MANE Select | NP_008819.1:p.Asn98Phe | |
| NM_001363669.2:c.184_185delinsTT | NP_001350598.1:p.Asn62Phe | |
| NM_001363670.2:c.295_296delinsTT | NP_001350599.1:p.Asn99Phe |