HGVS | Genome Assembly |
---|---|
NC_000014.9:g.23424716_23424717del , CM000676.2:g.23424716_23424717del | GRCh38 |
NC_000014.8:g.23893925_23893926del , CM000676.1:g.23893925_23893926del | GRCh37 |
NC_000014.7:g.22963765_22963766del | NCBI36 |
NG_007884.1:g.15946_15947del , LRG_384:g.15946_15947del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000355349.4:c.2679+53_2679+54del MANE Select | ENSP00000347507.3:n.2679+53_2679+54del | |
ENST00000355349.3:c.2679+53_2679+54del | ENSP00000347507.3:n.2679+53_2679+54del | |
NM_000257.3:c.2679+53_2679+54del | NP_000248.2:n.2679+53_2679+54del | |
XR_245686.3:n.2785+53_2785+54del | ||
XM_017021340.1:c.2679+53_2679+54del | XP_016876829.1:n.2679+53_2679+54del | |
NM_000257.4:c.2679+53_2679+54del MANE Select | NP_000248.2:n.2679+53_2679+54del |