Canonical Allele Identifier: CA043376
Gene: MYH7 HGNC NCBI
MHRT HGNC NCBI

Linked Data

dbSNP Id: rs779524255
ExAC: 14:23885528 AG / A
gnomAD v2: 14-23885528-AG-A
gnomAD v4: 14-23416319-AG-A
MyVariant Identifiers: chr14:g.23885529del (hg19) chr14:g.23416320del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23416323del , CM000676.2:g.23416323del GRCh38
NC_000014.8:g.23885532del , CM000676.1:g.23885532del GRCh37
NC_000014.7:g.22955372del NCBI36
NG_007884.1:g.24342del , LRG_384:g.24342del

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.4645-8del (MYH7) MANE Select ENSP00000347507.3:n.4645-8del
ENST00000355349.3:c.4645-8del (MYH7) ENSP00000347507.3:n.4645-8del
NM_000257.3:c.4645-8del (MYH7) NP_000248.2:n.4645-8del
NR_126491.1:n.558+26del (MHRT)
XM_017021340.1:c.4645-8del (MYH7) XP_016876829.1:n.4645-8del
NM_000257.4:c.4645-8del (MYH7) MANE Select NP_000248.2:n.4645-8del
Search 100 bp 5'
Search 100 bp 3'