HGVS | Genome Assembly |
---|---|
NC_000014.9:g.23425215_23425222del , CM000676.2:g.23425215_23425222del | GRCh38 |
NC_000014.8:g.23894424_23894431del , CM000676.1:g.23894424_23894431del | GRCh37 |
NC_000014.7:g.22964264_22964271del | NCBI36 |
NG_007884.1:g.15440_15447del , LRG_384:g.15440_15447del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000355349.4:c.2423+60_2423+67del MANE Select | ENSP00000347507.3:n.2423+60_2423+67del | |
ENST00000355349.3:c.2423+60_2423+67del | ENSP00000347507.3:n.2423+60_2423+67del | |
NM_000257.3:c.2423+60_2423+67del | NP_000248.2:n.2423+60_2423+67del | |
XR_245686.3:n.2529+60_2529+67del | ||
XM_017021340.1:c.2423+60_2423+67del | XP_016876829.1:n.2423+60_2423+67del | |
NM_000257.4:c.2423+60_2423+67del MANE Select | NP_000248.2:n.2423+60_2423+67del |