HGVS | Genome Assembly |
---|---|
NC_000014.9:g.23423436_23423437del , CM000676.2:g.23423436_23423437del | GRCh38 |
NC_000014.8:g.23892645_23892646del , CM000676.1:g.23892645_23892646del | GRCh37 |
NC_000014.7:g.22962485_22962486del | NCBI36 |
NG_007884.1:g.17226_17227del , LRG_384:g.17226_17227del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000355349.4:c.3099+111_3099+112del MANE Select | ENSP00000347507.3:n.3099+111_3099+112del | |
ENST00000355349.3:c.3099+111_3099+112del | ENSP00000347507.3:n.3099+111_3099+112del | |
NM_000257.3:c.3099+111_3099+112del | NP_000248.2:n.3099+111_3099+112del | |
XR_245686.3:n.3205+111_3205+112del | ||
XM_017021340.1:c.3099+111_3099+112del | XP_016876829.1:n.3099+111_3099+112del | |
NM_000257.4:c.3099+111_3099+112del MANE Select | NP_000248.2:n.3099+111_3099+112del |