HGVS | Genome Assembly |
---|---|
NC_000019.10:g.47003925_47003926insCCAC , CM000681.2:g.47003925_47003926insCCAC | GRCh38 |
NC_000019.9:g.47507182_47507183insCCAC , CM000681.1:g.47507182_47507183insCCAC | GRCh37 |
NC_000019.8:g.52199022_52199023insCCAC | NCBI36 |
NG_047014.1:g.90359_90360insCCAC | |
NG_047014.2:g.147929_147930insCCAC |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000404338.8:c.7737_7738insCCAC | ENSP00000385720.2:n.7737_7738insCCAC | |
ENST00000672722.1:c.*3237_*3238insCCAC MANE Select | ENSP00000500409.1:n.*3237_*3238insCCAC | |
ENST00000404338.7:c.7737_7738insCCAC | ENSP00000385720.2:n.7737_7738insCCAC | |
ENST00000614079.1:c.7314_7315insCCAC | ENSP00000483730.1:n.7314_7315insCCAC | |
NM_004491.4:c.7737_7738insCCAC | NP_004482.4:n.7737_7738insCCAC | |
NM_004491.5:c.*3237_*3238insCCAC MANE Select | NP_004482.4:n.*3237_*3238insCCAC |