Canonical Allele Identifier: CA658658243
Gene: MYH7 HGNC NCBI
MHRT HGNC NCBI

Linked Data

ClinVar Variation Id: 453145
ClinVar RCV Id: RCV000523739
dbSNP Id: rs1555336439
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23416129_23416131delinsGGTTGCGGC , CM000676.2:g.23416129_23416131delinsGGTTGCGGC GRCh38
NC_000014.8:g.23885338_23885340delinsGGTTGCGGC , CM000676.1:g.23885338_23885340delinsGGTTGCGGC GRCh37
NC_000014.7:g.22955178_22955180delinsGGTTGCGGC NCBI36
NG_007884.1:g.24531_24533delinsGCCGCAACC , LRG_384:g.24531_24533delinsGCCGCAACC

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.4826_4828delinsGCCGCAACC (MYH7) MANE Select ENSP00000347507.3:p.Asn1609_Glu1610delinsSerArgAsnGln
ENST00000355349.3:c.4826_4828delinsGCCGCAACC (MYH7) ENSP00000347507.3:p.Asn1609_Glu1610delinsSerArgAsnGln
NM_000257.3:c.4826_4828delinsGCCGCAACC (MYH7) NP_000248.2:p.Asn1609_Glu1610delinsSerArgAsnGln
NR_126491.1:n.390_392delinsGGTTGCGGC (MHRT)
XM_017021340.1:c.4826_4828delinsGCCGCAACC (MYH7) XP_016876829.1:p.Asn1609_Glu1610delinsSerArgAsnGln
NM_000257.4:c.4826_4828delinsGCCGCAACC (MYH7) MANE Select NP_000248.2:p.Asn1609_Glu1610delinsSerArgAsnGln
Search 100 bp 5'
Search 100 bp 3'