Canonical Allele Identifier: CA2123452918
Gene: MYH7 HGNC NCBI

Linked Data

dbSNP Id: rs1892960495
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23431866del , CM000676.2:g.23431866del GRCh38
NC_000014.8:g.23901075del , CM000676.1:g.23901075del GRCh37
NC_000014.7:g.22970915del NCBI36
NG_007884.1:g.8796del , LRG_384:g.8796del

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.534del MANE Select ENSP00000347507.3:p.Glu179AsnfsTer?
ENST00000355349.3:c.534del ENSP00000347507.3:p.Glu179AsnfsTer?
NM_000257.3:c.534del NP_000248.2:p.Glu179AsnfsTer?
XR_245686.3:n.640del
XM_017021340.1:c.534del XP_016876829.1:p.Glu179AsnfsTer?
NM_000257.4:c.534del MANE Select NP_000248.2:p.Glu179AsnfsTer?
Search 100 bp 5'
Search 100 bp 3'