Canonical Allele Identifier: CA2580087886
Gene: MYH7 HGNC NCBI
MHRT HGNC NCBI

Linked Data

ClinVar Variation Id: 1742195
ClinVar RCV Id: RCV002335078
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23416302_23416304delinsAGGAGG , CM000676.2:g.23416302_23416304delinsAGGAGG GRCh38
NC_000014.8:g.23885511_23885513delinsAGGAGG , CM000676.1:g.23885511_23885513delinsAGGAGG GRCh37
NC_000014.7:g.22955351_22955353delinsAGGAGG NCBI36
NG_007884.1:g.24358_24360delinsCCTCCT , LRG_384:g.24358_24360delinsCCTCCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.4653_4655delinsCCTCCT (MYH7) MANE Select ENSP00000347507.3:p.Glu1552delinsLeuLeu
ENST00000355349.3:c.4653_4655delinsCCTCCT (MYH7) ENSP00000347507.3:p.Glu1552delinsLeuLeu
NM_000257.3:c.4653_4655delinsCCTCCT (MYH7) NP_000248.2:p.Glu1552delinsLeuLeu
NR_126491.1:n.558+5_558+7delinsAGGAGG (MHRT)
XM_017021340.1:c.4653_4655delinsCCTCCT (MYH7) XP_016876829.1:p.Glu1552delinsLeuLeu
NM_000257.4:c.4653_4655delinsCCTCCT (MYH7) MANE Select NP_000248.2:p.Glu1552delinsLeuLeu
Search 100 bp 5'
Search 100 bp 3'