Canonical Allele Identifier: CA257825769
Gene: MYH7 HGNC NCBI

Linked Data

dbSNP Id: rs751559400
gnomAD v2: 14-23900547-G-GGA
gnomAD v3: 14-23431338-G-GGA
gnomAD v4: 14-23431338-G-GGA
MyVariant Identifiers: chr14:g.23900551_23900552insGA (hg19) chr14:g.23900547_23900548insGA (hg19) chr14:g.23431342_23431343insGA (hg38) chr14:g.23431338_23431339insGA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23431350_23431351dup , CM000676.2:g.23431350_23431351dup GRCh38
NC_000014.8:g.23900559_23900560dup , CM000676.1:g.23900559_23900560dup GRCh37
NC_000014.7:g.22970399_22970400dup NCBI36
NG_007884.1:g.9322_9323dup , LRG_384:g.9322_9323dup

Transcript Alleles

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