Canonical Allele Identifier: CA257825767
Gene: MYH7 HGNC NCBI

Linked Data

dbSNP Id: rs751559400
gnomAD v2: 14-23900547-GGA-G
gnomAD v3: 14-23431338-GGA-G
gnomAD v4: 14-23431338-GGA-G
MyVariant Identifiers: chr14:g.23900550_23900551del (hg19) chr14:g.23900548_23900549del (hg19) chr14:g.23431341_23431342del (hg38) chr14:g.23431339_23431340del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23431350_23431351del , CM000676.2:g.23431350_23431351del GRCh38
NC_000014.8:g.23900559_23900560del , CM000676.1:g.23900559_23900560del GRCh37
NC_000014.7:g.22970399_22970400del NCBI36
NG_007884.1:g.9322_9323del , LRG_384:g.9322_9323del

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.796+78_796+79del MANE Select ENSP00000347507.3:n.796+78_796+79del
ENST00000355349.3:c.796+78_796+79del ENSP00000347507.3:n.796+78_796+79del
NM_000257.3:c.796+78_796+79del NP_000248.2:n.796+78_796+79del
XR_245686.3:n.902+78_902+79del
XM_017021340.1:c.796+78_796+79del XP_016876829.1:n.796+78_796+79del
NM_000257.4:c.796+78_796+79del MANE Select NP_000248.2:n.796+78_796+79del
Search 100 bp 5'
Search 100 bp 3'