HGVS | Genome Assembly |
---|---|
NC_000005.10:g.174724712_174724713insCCCC , CM000667.2:g.174724712_174724713insCCCC | GRCh38 |
NC_000005.9:g.174151715_174151716insCCCC , CM000667.1:g.174151715_174151716insCCCC | GRCh37 |
NC_000005.8:g.174084321_174084322insCCCC | NCBI36 |
NG_008124.1:g.5141_5142insCCCC |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000239243.7:c.53_54insCCCC MANE Select | ENSP00000239243.5:p.Ala19ProfsTer? | |
ENST00000239243.6:c.53_54insCCCC | ENSP00000239243.5:p.Ala19ProfsTer? | |
ENST00000507785.2:c.53_54insCCCC | ENSP00000427425.1:p.Ala19ProfsTer? | |
NM_002449.4:c.53_54insCCCC | NP_002440.2:p.Ala19ProfsTer? | |
NM_001363626.1:c.53_54insCCCC | NP_001350555.1:p.Ala19ProfsTer? | |
NM_002449.5:c.53_54insCCCC MANE Select | NP_002440.2:p.Ala19ProfsTer? | |
NM_001363626.2:c.53_54insCCCC | NP_001350555.1:p.Ala19ProfsTer? |