Canonical Allele Identifier: CA2624232153
Gene: MYH7 HGNC NCBI

Linked Data

gnomAD v4: 14-23415267-CG-C
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23415269del , CM000676.2:g.23415269del GRCh38
NC_000014.8:g.23884478del , CM000676.1:g.23884478del GRCh37
NC_000014.7:g.22954318del NCBI36
NG_007884.1:g.25394del , LRG_384:g.25394del

Transcript Alleles

HGVS Amino-acid change
ENST00000355349.4:c.5286del MANE Select ENSP00000347507.3:p.Ala1763ProfsTer2
ENST00000355349.3:c.5286del ENSP00000347507.3:p.Ala1763ProfsTer2
NM_000257.3:c.5286del NP_000248.2:p.Ala1763ProfsTer2
XM_017021340.1:c.5286del XP_016876829.1:p.Ala1763ProfsTer2
NM_000257.4:c.5286del MANE Select NP_000248.2:p.Ala1763ProfsTer2
Search 100 bp 5'
Search 100 bp 3'