HGVS | Genome Assembly |
---|---|
NC_000023.11:g.134475069_134475072del , CM000685.2:g.134475069_134475072del | GRCh38 |
NC_000023.10:g.133609099_133609102del , CM000685.1:g.133609099_133609102del | GRCh37 |
NC_000023.9:g.133436765_133436768del | NCBI36 |
NG_012329.1:g.19925_19928del | |
NG_012329.2:g.19925_19928del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000298556.8:c.135-112_135-109del MANE Select | ENSP00000298556.7:n.135-112_135-109del | |
ENST00000298556.7:c.135-112_135-109del | ENSP00000298556.7:n.135-112_135-109del | |
ENST00000462974.5:n.293-112_293-109del | ||
ENST00000475720.1:n.93-112_93-109del | ||
NM_000194.2:c.135-112_135-109del | NP_000185.1:n.135-112_135-109del | |
XM_011531328.1:c.153-112_153-109del | XP_011529630.1:n.153-112_153-109del | |
NM_000194.3:c.135-112_135-109del MANE Select | NP_000185.1:n.135-112_135-109del |