HGVS | Genome Assembly |
---|---|
NC_000014.9:g.23423541_23423543del , CM000676.2:g.23423541_23423543del | GRCh38 |
NC_000014.8:g.23892750_23892752del , CM000676.1:g.23892750_23892752del | GRCh37 |
NC_000014.7:g.22962590_22962592del | NCBI36 |
NG_007884.1:g.17121_17123del , LRG_384:g.17121_17123del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000355349.4:c.3099+6_3099+8del MANE Select | ENSP00000347507.3:n.3099+6_3099+8del | |
ENST00000355349.3:c.3099+6_3099+8del | ENSP00000347507.3:n.3099+6_3099+8del | |
NM_000257.3:c.3099+6_3099+8del | NP_000248.2:n.3099+6_3099+8del | |
XR_245686.3:n.3205+6_3205+8del | ||
XM_017021340.1:c.3099+6_3099+8del | XP_016876829.1:n.3099+6_3099+8del | |
NM_000257.4:c.3099+6_3099+8del MANE Select | NP_000248.2:n.3099+6_3099+8del |