HGVS | Genome Assembly |
---|---|
NC_000009.12:g.98541603_98541615del , CM000671.2:g.98541603_98541615del | GRCh38 |
NC_000009.11:g.101303885_101303897del , CM000671.1:g.101303885_101303897del | GRCh37 |
NC_000009.10:g.100343706_100343718del | NCBI36 |
NG_016426.1:g.172583_172595del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000259455.4:c.630+258_630+270del MANE Select | ENSP00000259455.2:n.630+258_630+270del | |
ENST00000637410.1:n.408+258_408+270del | ||
ENST00000259455.3:c.630+258_630+270del | ENSP00000259455.2:n.630+258_630+270del | |
ENST00000477471.1:n.417+258_417+270del | ||
ENST00000634227.1:n.404+258_404+270del | ||
NM_005458.7:c.630+258_630+270del | NP_005449.5:n.630+258_630+270del | |
XM_017015331.2:c.336+258_336+270del | XP_016870820.1:n.336+258_336+270del | |
NM_005458.8:c.630+258_630+270del MANE Select | NP_005449.5:n.630+258_630+270del |