HGVS | Genome Assembly |
---|---|
NC_000014.9:g.28767412_28767748delinsACCCACCGCCCC , CM000676.2:g.28767412_28767748delinsACCCACCGCCCC | GRCh38 |
NC_000014.8:g.29236618_29236954delinsACCCACCGCCCC , CM000676.1:g.29236618_29236954delinsACCCACCGCCCC | GRCh37 |
NC_000014.7:g.28306369_28306705delinsACCCACCGCCCC | NCBI36 |
NG_009367.1:g.5332_5668delinsACCCACCGCCCC |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000706482.1:c.133_469delinsACCCACCGCCCC | ENSP00000516406.1:p.Pro45ThrfsTer? | |
ENST00000313071.7:c.133_469delinsACCCACCGCCCC MANE Select | ENSP00000339004.3:p.Pro45ThrfsTer? | |
ENST00000313071.6:c.133_469delinsACCCACCGCCCC | ENSP00000339004.3:p.Pro45ThrfsTer? | |
NM_005249.4:c.133_469delinsACCCACCGCCCC | NP_005240.3:p.Pro45ThrfsTer? | |
NM_005249.5:c.133_469delinsACCCACCGCCCC MANE Select | NP_005240.3:p.Pro45ThrfsTer? |