Canonical Allele Identifier: CA257825763
Gene: MYH7 HGNC NCBI

Linked Data

dbSNP Id: rs920489501
gnomAD v3: 14-23431324-CAG-C
gnomAD v4: 14-23431324-CAG-C
MyVariant Identifiers: chr14:g.23900534_23900535del (hg19) chr14:g.23431325_23431326del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23431327_23431328del , CM000676.2:g.23431327_23431328del GRCh38
NC_000014.8:g.23900536_23900537del , CM000676.1:g.23900536_23900537del GRCh37
NC_000014.7:g.22970376_22970377del NCBI36
NG_007884.1:g.9336_9337del , LRG_384:g.9336_9337del

Transcript Alleles

HGVS Amino-acid change
ENST00000355349.4:c.796+92_796+93del MANE Select ENSP00000347507.3:n.796+92_796+93del
ENST00000355349.3:c.796+92_796+93del ENSP00000347507.3:n.796+92_796+93del
NM_000257.3:c.796+92_796+93del NP_000248.2:n.796+92_796+93del
XR_245686.3:n.902+92_902+93del
XM_017021340.1:c.796+92_796+93del XP_016876829.1:n.796+92_796+93del
NM_000257.4:c.796+92_796+93del MANE Select NP_000248.2:n.796+92_796+93del
Search 100 bp 5'
Search 100 bp 3'