Canonical Allele Identifier: CA2741360400
Gene: MYH7 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23417645_23417653del , CM000676.2:g.23417645_23417653del GRCh38
NC_000014.8:g.23886854_23886862del , CM000676.1:g.23886854_23886862del GRCh37
NC_000014.7:g.22956694_22956702del NCBI36
NG_007884.1:g.23015_23023del , LRG_384:g.23015_23023del

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.4209_4217del MANE Select ENSP00000347507.3:p.Val1404_Ala1406del
ENST00000355349.3:c.4209_4217del ENSP00000347507.3:p.Val1404_Ala1406del
NM_000257.3:c.4209_4217del NP_000248.2:p.Val1404_Ala1406del
XM_017021340.1:c.4209_4217del XP_016876829.1:p.Val1404_Ala1406del
NM_000257.4:c.4209_4217del MANE Select NP_000248.2:p.Val1404_Ala1406del
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