HGVS | Genome Assembly |
---|---|
NC_000006.12:g.24658484_24658486del , CM000668.2:g.24658484_24658486del | GRCh38 |
NC_000006.11:g.24658712_24658714del , CM000668.1:g.24658712_24658714del | GRCh37 |
NC_000006.10:g.24766691_24766693del | NCBI36 |
NG_052787.1:g.13402_13404del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000378198.9:c.425+75_425+77del MANE Select | ENSP00000367440.4:n.425+75_425+77del | |
ENST00000341060.3:c.251+75_251+77del | ENSP00000345345.3:n.251+75_251+77del | |
ENST00000378198.8:c.425+75_425+77del | ENSP00000367440.4:n.425+75_425+77del | |
ENST00000478285.1:n.612+75_612+77del | ||
ENST00000478507.1:n.320-5333_320-5331del | ||
NM_016614.2:c.425+75_425+77del | NP_057698.2:n.425+75_425+77del | |
XR_926244.1:n.552+75_552+77del | ||
NM_016614.3:c.425+75_425+77del MANE Select | NP_057698.2:n.425+75_425+77del |