Canonical Allele Identifier: CA612937352
Gene: MYH7 HGNC NCBI

Linked Data

dbSNP Id: rs1218741328
gnomAD v2: 14-23892639-AACACAAAC-A
gnomAD v3: 14-23423430-AACACAAAC-A
gnomAD v4: 14-23423430-AACACAAAC-A
MyVariant Identifiers: chr14:g.23892642_23892649del (hg19) chr14:g.23892640_23892647del (hg19) chr14:g.23423433_23423440del (hg38) chr14:g.23423431_23423438del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23423436_23423443del , CM000676.2:g.23423436_23423443del GRCh38
NC_000014.8:g.23892645_23892652del , CM000676.1:g.23892645_23892652del GRCh37
NC_000014.7:g.22962485_22962492del NCBI36
NG_007884.1:g.17224_17231del , LRG_384:g.17224_17231del

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.3099+109_3099+116del MANE Select ENSP00000347507.3:n.3099+109_3099+116del
ENST00000355349.3:c.3099+109_3099+116del ENSP00000347507.3:n.3099+109_3099+116del
NM_000257.3:c.3099+109_3099+116del NP_000248.2:n.3099+109_3099+116del
XR_245686.3:n.3205+109_3205+116del
XM_017021340.1:c.3099+109_3099+116del XP_016876829.1:n.3099+109_3099+116del
NM_000257.4:c.3099+109_3099+116del MANE Select NP_000248.2:n.3099+109_3099+116del
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