Canonical Allele Identifier: CA613318118
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 1383257
ClinVar RCV Id: RCV001924548 RCV002386656
dbSNP Id: rs1386136433
gnomAD v2: 14-23898199-C-CTATGAA
gnomAD v3: 14-23428990-C-CTATGAA
gnomAD v4: 14-23428990-C-CTATGAA
MyVariant Identifiers: chr14:g.23898199_23898200insTATGAA (hg19) chr14:g.23428990_23428991insTATGAA (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23428991_23428996dup , CM000676.2:g.23428991_23428996dup GRCh38
NC_000014.8:g.23898200_23898205dup , CM000676.1:g.23898200_23898205dup GRCh37
NC_000014.7:g.22968040_22968045dup NCBI36
NG_007884.1:g.11666_11671dup , LRG_384:g.11666_11671dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.1366_1371dup MANE Select ENSP00000347507.3:p.Ile457_Gly458insPheIle
ENST00000355349.3:c.1366_1371dup ENSP00000347507.3:p.Ile457_Gly458insPheIle
NM_000257.3:c.1366_1371dup NP_000248.2:p.Ile457_Gly458insPheIle
XR_245686.3:n.1472_1477dup
XM_017021340.1:c.1366_1371dup XP_016876829.1:p.Ile457_Gly458insPheIle
NM_000257.4:c.1366_1371dup MANE Select NP_000248.2:p.Ile457_Gly458insPheIle
Search 100 bp 5'
Search 100 bp 3'