HGVS | Genome Assembly |
---|---|
NC_000024.10:g.2854489_2854491del , CM000686.2:g.2854489_2854491del | GRCh38 |
NC_000024.9:g.2722530_2722532del , CM000686.1:g.2722530_2722532del | GRCh37 |
NC_000024.8:g.2782530_2782532del | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000681940.1:n.205-111_205-109del | ||
ENST00000250784.13:c.361-111_361-109del MANE Select | ENSP00000250784.7:n.361-111_361-109del | |
ENST00000250784.12:c.361-111_361-109del | ENSP00000250784.7:n.361-111_361-109del | |
ENST00000430575.1:c.388-111_388-109del | ENSP00000415317.1:n.388-111_388-109del | |
ENST00000477725.1:n.394_396del | ||
NM_001008.3:c.361-111_361-109del | NP_000999.1:n.361-111_361-109del | |
NM_001008.4:c.361-111_361-109del MANE Select | NP_000999.1:n.361-111_361-109del |