HGVS | Genome Assembly |
---|---|
NC_000003.12:g.10147075_10150956del , CM000665.2:g.10147075_10150956del | GRCh38 |
NC_000003.11:g.10188759_10192640del , CM000665.1:g.10188759_10192640del | GRCh37 |
NC_000003.10:g.10163759_10167640del | NCBI36 |
NG_008212.3:g.10441_14322del , LRG_322:g.10441_14322del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000696142.1:c.*140+439_*1310del | ||
ENST00000696143.1:c.600-2712_1769del | ||
ENST00000696153.1:c.463+439_*991del | ||
ENST00000256474.3:c.463+439_*991del | ||
ENST00000256474.2:c.463+439_*991del | ||
ENST00000345392.2:c.341-2712_*991del | ||
NM_000551.3:c.463+439_*991del , LRG_322t1:c.463+439_*991del | ||
NM_198156.2:c.341-2712_*991del | ||
NM_001354723.1:c.*18-2712_*1187del | ||
NM_000551.4:c.463+439_*991del | ||
NM_001354723.2:c.*18-2712_*1187del | ||
NM_198156.3:c.341-2712_*991del |