Canonical Allele Identifier: CA2624235760
Gene: MYH7 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23423490_23423491del , CM000676.2:g.23423490_23423491del GRCh38
NC_000014.8:g.23892699_23892700del , CM000676.1:g.23892699_23892700del GRCh37
NC_000014.7:g.22962539_22962540del NCBI36
NG_007884.1:g.17171_17172del , LRG_384:g.17171_17172del

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.3099+56_3099+57del MANE Select ENSP00000347507.3:n.3099+56_3099+57del
ENST00000355349.3:c.3099+56_3099+57del ENSP00000347507.3:n.3099+56_3099+57del
NM_000257.3:c.3099+56_3099+57del NP_000248.2:n.3099+56_3099+57del
XR_245686.3:n.3205+56_3205+57del
XM_017021340.1:c.3099+56_3099+57del XP_016876829.1:n.3099+56_3099+57del
NM_000257.4:c.3099+56_3099+57del MANE Select NP_000248.2:n.3099+56_3099+57del