HGVS | Genome Assembly |
---|---|
NC_000010.11:g.110601803_110601805del , CM000672.2:g.110601803_110601805del | GRCh38 |
NC_000010.10:g.112361561_112361563del , CM000672.1:g.112361561_112361563del | GRCh37 |
NC_000010.9:g.112351551_112351553del | NCBI36 |
NG_012217.1:g.39113_39115del , LRG_774:g.39113_39115del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000684988.1:n.5044_5046del | ||
ENST00000685743.1:n.2519_2521del | ||
ENST00000686057.1:n.1162_1164del | ||
ENST00000689321.1:n.1774_1776del | ||
ENST00000689986.1:n.600_602del | ||
ENST00000361804.5:c.2811_2813del MANE Select | ENSP00000354720.5:p.Glu938del | |
ENST00000361804.4:c.2811_2813del | ENSP00000354720.4:p.Glu938del | |
NM_005445.3:c.2811_2813del , LRG_774t1:c.2811_2813del | NP_005436.1:p.Glu938del | |
NM_005445.4:c.2811_2813del MANE Select | NP_005436.1:p.Glu938del |