HGVS | Genome Assembly |
---|---|
NC_000019.10:g.43551914_43551915dup , CM000681.2:g.43551914_43551915dup | GRCh38 |
NC_000019.9:g.44056066_44056067dup , CM000681.1:g.44056066_44056067dup | GRCh37 |
NC_000019.8:g.48747906_48747907dup | NCBI36 |
NG_033799.1:g.28674_28675dup , LRG_784:g.28674_28675dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000262887.10:c.1082+112_1082+113dup MANE Select | ENSP00000262887.5:n.1082+112_1082+113dup | |
ENST00000262887.9:c.1082+112_1082+113dup | ENSP00000262887.4:n.1082+112_1082+113dup | |
ENST00000543982.5:c.989+112_989+113dup | ENSP00000443671.1:n.989+112_989+113dup | |
ENST00000597811.5:c.692+112_692+113dup | ||
NM_006297.2:c.1082+112_1082+113dup , LRG_784t1:c.1082+112_1082+113dup | NP_006288.2:n.1082+112_1082+113dup | |
NM_006297.3:c.1082+112_1082+113dup MANE Select | NP_006288.2:n.1082+112_1082+113dup |