Canonical Allele Identifier: CA2839165603
Gene: MYH7 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23429247dup , CM000676.2:g.23429247dup GRCh38
NC_000014.8:g.23898456dup , CM000676.1:g.23898456dup GRCh37
NC_000014.7:g.22968296dup NCBI36
NG_007884.1:g.11418dup , LRG_384:g.11418dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.1242dup MANE Select ENSP00000347507.3:p.Gln415AlafsTer19
ENST00000355349.3:c.1242dup ENSP00000347507.3:p.Gln415AlafsTer19
NM_000257.3:c.1242dup NP_000248.2:p.Gln415AlafsTer19
XR_245686.3:n.1348dup
XM_017021340.1:c.1242dup XP_016876829.1:p.Gln415AlafsTer19
NM_000257.4:c.1242dup MANE Select NP_000248.2:p.Gln415AlafsTer19
Search 100 bp 5'
Search 100 bp 3'