HGVS | Genome Assembly |
---|---|
NC_000009.12:g.137192179_137192184del , CM000671.2:g.137192179_137192184del | GRCh38 |
NC_000009.11:g.140086631_140086636del , CM000671.1:g.140086631_140086636del | GRCh37 |
NC_000009.10:g.139206452_139206457del | NCBI36 |
NG_027801.1:g.13531_13536del | |
NG_027801.2:g.17013_17018del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000409012.6:c.2074-7_2074-2del MANE Select | ENSP00000387100.4:n.2074-7_2074-2del | |
ENST00000333046.8:c.1545_1550del | ENSP00000327617.4:p.His515_Phe516del | |
ENST00000409012.4:c.2074-7_2074-2del | ENSP00000387100.4:n.2074-7_2074-2del | |
ENST00000477345.1:n.2795-7_2795-2del | ||
NM_001128228.2:c.2074-7_2074-2del | NP_001121700.2:n.2074-7_2074-2del | |
NM_001128228.3:c.2074-7_2074-2del MANE Select | NP_001121700.2:n.2074-7_2074-2del |