HGVS | Genome Assembly |
---|---|
NC_000024.10:g.2854214_2854215del , CM000686.2:g.2854214_2854215del | GRCh38 |
NC_000024.9:g.2722255_2722256del , CM000686.1:g.2722255_2722256del | GRCh37 |
NC_000024.8:g.2782255_2782256del | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000681940.1:n.205-386_205-385del | ||
ENST00000250784.13:c.361-386_361-385del MANE Select | ENSP00000250784.7:n.361-386_361-385del | |
ENST00000250784.12:c.361-386_361-385del | ENSP00000250784.7:n.361-386_361-385del | |
ENST00000430575.1:c.388-386_388-385del | ENSP00000415317.1:n.388-386_388-385del | |
ENST00000477725.1:n.119_120del | ||
NM_001008.3:c.361-386_361-385del | NP_000999.1:n.361-386_361-385del | |
NM_001008.4:c.361-386_361-385del MANE Select | NP_000999.1:n.361-386_361-385del |