HGVS | Genome Assembly |
---|---|
NC_000023.11:g.154956894_154956896del , CM000685.2:g.154956894_154956896del | GRCh38 |
NC_000023.10:g.154185169_154185171del , CM000685.1:g.154185169_154185171del | GRCh37 |
NC_000023.9:g.153838363_153838365del | NCBI36 |
NG_011403.1:g.70831_70833del | |
NG_011403.2:g.70831_70833del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000360256.9:c.1752+64_1752+66del MANE Select | ENSP00000353393.4:n.1752+64_1752+66del | |
ENST00000647125.1:c.*1628+64_*1628+66del | ENSP00000496062.1:n.*1628+64_*1628+66del | |
ENST00000360256.8:c.1752+64_1752+66del | ENSP00000353393.4:n.1752+64_1752+66del | |
NM_000132.3:c.1752+64_1752+66del | NP_000123.1:n.1752+64_1752+66del | |
XM_011531126.1:c.1647+64_1647+66del | XP_011529428.1:n.1647+64_1647+66del | |
NM_000132.4:c.1752+64_1752+66del MANE Select | NP_000123.1:n.1752+64_1752+66del |