HGVS | Genome Assembly |
---|---|
NC_000011.10:g.2848991_2848995dup , CM000673.2:g.2848991_2848995dup | GRCh38 |
NC_000011.9:g.2870221_2870225dup , CM000673.1:g.2870221_2870225dup | GRCh37 |
NC_000011.8:g.2826797_2826801dup | NCBI36 |
NG_008935.1:g.409001_409005dup , LRG_287:g.409001_409005dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000155840.12:c.*988_*992dup (KCNQ1) MANE Select | ENSP00000155840.2:n.*988_*992dup | |
ENST00000155840.9:c.*988_*992dup (KCNQ1) | ENSP00000155840.2:n.*988_*992dup | |
NM_000218.2:c.*988_*992dup , LRG_287t1:c.*988_*992dup (KCNQ1) | NP_000209.2:n.*988_*992dup | |
NM_181798.1:c.*988_*992dup , LRG_287t2:c.*988_*992dup (KCNQ1) | NP_861463.1:n.*988_*992dup | |
NR_130721.1:n.778-8553_778-8549dup (KCNQ1-AS1) | ||
NM_000218.3:c.*988_*992dup (KCNQ1) MANE Select | NP_000209.2:n.*988_*992dup |