Canonical Allele Identifier: CA2576401848
Gene: MYL4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.47221945_47221947del , CM000679.2:g.47221945_47221947del GRCh38
NC_000017.10:g.45299311_45299313del , CM000679.1:g.45299311_45299313del GRCh37
NC_000017.9:g.42654310_42654312del NCBI36
NG_052847.1:g.17929_17931del

Transcript Alleles

HGVS Amino-acid Change
ENST00000354968.5:c.487+90_487+92del ENSP00000347055.1:n.487+90_487+92del
ENST00000393450.5:c.487+90_487+92del MANE Select ENSP00000377096.1:n.487+90_487+92del
ENST00000536623.6:c.487+90_487+92del ENSP00000442375.2:n.487+90_487+92del
ENST00000570671.1:c.198+90_198+92del
ENST00000571981.5:c.*273+90_*273+92del ENSP00000459035.1:n.*273+90_*273+92del
ENST00000572316.5:c.487+90_487+92del ENSP00000461570.1:n.487+90_487+92del
ENST00000573747.6:c.*89+90_*89+92del ENSP00000460734.1:n.*89+90_*89+92del
ENST00000576874.5:c.487+90_487+92del ENSP00000458907.1:n.487+90_487+92del
NM_001002841.1:c.487+90_487+92del NP_001002841.1:n.487+90_487+92del
NM_002476.2:c.487+90_487+92del MANE Select NP_002467.1:n.487+90_487+92del
XM_005257391.3:c.487+90_487+92del XP_005257448.1:n.487+90_487+92del
XM_011524838.1:c.487+90_487+92del XP_011523140.1:n.487+90_487+92del
XM_011524839.1:c.277+90_277+92del XP_011523141.1:n.277+90_277+92del
XM_005257391.5:c.487+90_487+92del XP_005257448.1:n.487+90_487+92del
XM_011524839.2:c.580+90_580+92del XP_011523141.2:n.580+90_580+92del
XM_017024683.1:c.580+90_580+92del XP_016880172.1:n.580+90_580+92del
XM_024450766.1:c.580+90_580+92del XP_024306534.1:n.580+90_580+92del
NM_001002841.2:c.487+90_487+92del NP_001002841.1:n.487+90_487+92del