Canonical Allele Identifier: CA2123453923
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 1022918
ClinVar RCV Id: RCV001322886
dbSNP Id: rs1892586321
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23423933_23423935del , CM000676.2:g.23423933_23423935del GRCh38
NC_000014.8:g.23893142_23893144del , CM000676.1:g.23893142_23893144del GRCh37
NC_000014.7:g.22962982_22962984del NCBI36
NG_007884.1:g.16729_16731del , LRG_384:g.16729_16731del

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.2896_2898del MANE Select ENSP00000347507.3:p.Lys966del
ENST00000355349.3:c.2896_2898del ENSP00000347507.3:p.Lys966del
NM_000257.3:c.2896_2898del NP_000248.2:p.Lys966del
XR_245686.3:n.3002_3004del
XM_017021340.1:c.2896_2898del XP_016876829.1:p.Lys966del
NM_000257.4:c.2896_2898del MANE Select NP_000248.2:p.Lys966del
Search 100 bp 5'
Search 100 bp 3'