HGVS | Genome Assembly |
---|---|
NC_000009.12:g.133255445_133255446del , CM000671.2:g.133255445_133255446del | GRCh38 |
NC_000009.11:g.136130832_136130833del , CM000671.1:g.136130832_136130833del | GRCh37 |
NC_000009.10:g.135120653_135120654del | NCBI36 |
NG_006669.1:g.22231_22232del | |
NG_006669.2:g.24779_24780del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000453660.4:n.1323_1324del | ||
ENST00000647353.1:n.54-4285_54-4284del | ||
ENST00000679909.1:c.28+19725_28+19726del | ENSP00000506089.1:n.28+19725_28+19726del | |
ENST00000453660.3:n.1305_1306del | ||
ENST00000611156.4:c.*229_*230del | ENSP00000483265.1:n.*229_*230del | |
NM_020469.2:c.*229_*230del | NP_065202.2:n.*229_*230del | |
NM_020469.3:c.*229_*230del | NP_065202.2:n.*229_*230del |