Canonical Allele Identifier: CA2123465517
Gene: MYH7 HGNC NCBI
MHRT HGNC NCBI

Linked Data

ClinVar Variation Id: 2182666
ClinVar RCV Id: RCV002610967
dbSNP Id: rs1892197471
gnomAD v4: 14-23416140-CGT-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23416143_23416144del , CM000676.2:g.23416143_23416144del GRCh38
NC_000014.8:g.23885352_23885353del , CM000676.1:g.23885352_23885353del GRCh37
NC_000014.7:g.22955192_22955193del NCBI36
NG_007884.1:g.24520_24521del , LRG_384:g.24520_24521del

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.4815_4816del (MYH7) MANE Select ENSP00000347507.3:p.Arg1606GlnfsTer18
ENST00000355349.3:c.4815_4816del (MYH7) ENSP00000347507.3:p.Arg1606GlnfsTer18
NM_000257.3:c.4815_4816del (MYH7) NP_000248.2:p.Arg1606GlnfsTer18
NR_126491.1:n.404_405del (MHRT)
XM_017021340.1:c.4815_4816del (MYH7) XP_016876829.1:p.Arg1606GlnfsTer18
NM_000257.4:c.4815_4816del (MYH7) MANE Select NP_000248.2:p.Arg1606GlnfsTer18
Search 100 bp 5'
Search 100 bp 3'