Canonical Allele Identifier: CA2123457701
Gene: MYH7 HGNC NCBI

Linked Data

dbSNP Id: rs1892063347
gnomAD v4: 14-23413705-GTCTGGGTATGCCTGC-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23413707_23413721del , CM000676.2:g.23413707_23413721del GRCh38
NC_000014.8:g.23882916_23882930del , CM000676.1:g.23882916_23882930del GRCh37
NC_000014.7:g.22952756_22952770del NCBI36
NG_007884.1:g.26942_26956del , LRG_384:g.26942_26956del

Transcript Alleles

HGVS Amino-acid change
ENST00000355349.4:c.5790+39_5790+53del MANE Select ENSP00000347507.3:n.5790+39_5790+53del
ENST00000355349.3:c.5790+39_5790+53del ENSP00000347507.3:n.5790+39_5790+53del
NM_000257.3:c.5790+39_5790+53del NP_000248.2:n.5790+39_5790+53del
XM_017021340.1:c.5790+39_5790+53del XP_016876829.1:n.5790+39_5790+53del
NM_000257.4:c.5790+39_5790+53del MANE Select NP_000248.2:n.5790+39_5790+53del
Search 100 bp 5'
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