HGVS | Genome Assembly |
---|---|
NC_000019.10:g.47003914_47003918dup , CM000681.2:g.47003914_47003918dup | GRCh38 |
NC_000019.9:g.47507171_47507175dup , CM000681.1:g.47507171_47507175dup | GRCh37 |
NC_000019.8:g.52199011_52199015dup | NCBI36 |
NG_047014.1:g.90348_90352dup | |
NG_047014.2:g.147918_147922dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000404338.8:c.7726_7730dup | ENSP00000385720.2:n.7726_7730dup | |
ENST00000672722.1:c.*3226_*3230dup MANE Select | ENSP00000500409.1:n.*3226_*3230dup | |
ENST00000404338.7:c.7726_7730dup | ENSP00000385720.2:n.7726_7730dup | |
ENST00000614079.1:c.7303_7307dup | ENSP00000483730.1:n.7303_7307dup | |
NM_004491.4:c.7726_7730dup | NP_004482.4:n.7726_7730dup | |
NM_004491.5:c.*3226_*3230dup MANE Select | NP_004482.4:n.*3226_*3230dup |