Canonical Allele Identifier: CA2624234372
Gene: MYH7 HGNC NCBI
MHRT HGNC NCBI

Linked Data

gnomAD v4: 14-23416155-AG-A
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23416158del , CM000676.2:g.23416158del GRCh38
NC_000014.8:g.23885367del , CM000676.1:g.23885367del GRCh37
NC_000014.7:g.22955207del NCBI36
NG_007884.1:g.24506del , LRG_384:g.24506del

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.4801del (MYH7) MANE Select ENSP00000347507.3:p.Leu1601TrpfsTer12
ENST00000355349.3:c.4801del (MYH7) ENSP00000347507.3:p.Leu1601TrpfsTer12
NM_000257.3:c.4801del (MYH7) NP_000248.2:p.Leu1601TrpfsTer12
NR_126491.1:n.419del (MHRT)
XM_017021340.1:c.4801del (MYH7) XP_016876829.1:p.Leu1601TrpfsTer12
NM_000257.4:c.4801del (MYH7) MANE Select NP_000248.2:p.Leu1601TrpfsTer12
Search 100 bp 5'
Search 100 bp 3'