HGVS | Genome Assembly |
---|---|
NC_000010.11:g.110573730del , CM000672.2:g.110573730del | GRCh38 |
NC_000010.10:g.112333488del , CM000672.1:g.112333488del | GRCh37 |
NC_000010.9:g.112323478del | NCBI36 |
NG_012217.1:g.11040del , LRG_774:g.11040del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000684988.1:n.248del | ||
ENST00000687823.1:n.45-1606del | ||
ENST00000689932.1:n.588del | ||
ENST00000691297.1:n.248del | ||
ENST00000691527.1:n.205del | ||
ENST00000692792.1:n.234del | ||
ENST00000361804.5:c.115del MANE Select | ENSP00000354720.5:p.Ser39ValfsTer? | |
ENST00000361804.4:c.115del | ENSP00000354720.4:p.Ser39ValfsTer? | |
ENST00000462899.1:n.261del | ||
NM_005445.3:c.115del , LRG_774t1:c.115del | NP_005436.1:p.Ser39ValfsTer? | |
NM_005445.4:c.115del MANE Select | NP_005436.1:p.Ser39ValfsTer? |