Canonical Allele Identifier: CA2729045264
Gene: MYH7 HGNC NCBI

Linked Data

dbSNP Id: rs2138676162

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23429365del , CM000676.2:g.23429365del GRCh38
NC_000014.8:g.23898574del , CM000676.1:g.23898574del GRCh37
NC_000014.7:g.22968414del NCBI36
NG_007884.1:g.11297del , LRG_384:g.11297del

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.1139-18del MANE Select ENSP00000347507.3:n.1139-18del
ENST00000355349.3:c.1139-18del ENSP00000347507.3:n.1139-18del
NM_000257.3:c.1139-18del NP_000248.2:n.1139-18del
XR_245686.3:n.1245-18del
XM_017021340.1:c.1139-18del XP_016876829.1:n.1139-18del
NM_000257.4:c.1139-18del MANE Select NP_000248.2:n.1139-18del