HGVS | Genome Assembly |
---|---|
NC_000019.10:g.43551914_43551915del , CM000681.2:g.43551914_43551915del | GRCh38 |
NC_000019.9:g.44056066_44056067del , CM000681.1:g.44056066_44056067del | GRCh37 |
NC_000019.8:g.48747906_48747907del | NCBI36 |
NG_033799.1:g.28674_28675del , LRG_784:g.28674_28675del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000262887.10:c.1082+112_1082+113del MANE Select | ENSP00000262887.5:n.1082+112_1082+113del | |
ENST00000262887.9:c.1082+112_1082+113del | ENSP00000262887.4:n.1082+112_1082+113del | |
ENST00000543982.5:c.989+112_989+113del | ENSP00000443671.1:n.989+112_989+113del | |
ENST00000597811.5:c.692+112_692+113del | ||
NM_006297.2:c.1082+112_1082+113del , LRG_784t1:c.1082+112_1082+113del | NP_006288.2:n.1082+112_1082+113del | |
NM_006297.3:c.1082+112_1082+113del MANE Select | NP_006288.2:n.1082+112_1082+113del |