Canonical Allele Identifier: CA2573149775
Gene: MYH7 HGNC NCBI
MHRT HGNC NCBI

Linked Data

ClinVar Variation Id: 1501597
ClinVar RCV Id: RCV002017589
dbSNP Id: rs2138645134
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23417166del , CM000676.2:g.23417166del GRCh38
NC_000014.8:g.23886375del , CM000676.1:g.23886375del GRCh37
NC_000014.7:g.22956215del NCBI36
NG_007884.1:g.23496del , LRG_384:g.23496del

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.4506del (MYH7) MANE Select ENSP00000347507.3:p.Asn1502LysfsTer11
ENST00000355349.3:c.4506del (MYH7) ENSP00000347507.3:p.Asn1502LysfsTer11
NM_000257.3:c.4506del (MYH7) NP_000248.2:p.Asn1502LysfsTer11
NR_126491.1:n.652-46del (MHRT)
XM_017021340.1:c.4506del (MYH7) XP_016876829.1:p.Asn1502LysfsTer11
NM_000257.4:c.4506del (MYH7) MANE Select NP_000248.2:p.Asn1502LysfsTer11
Search 100 bp 5'
Search 100 bp 3'