Canonical Allele Identifier: CA7116309
Gene: MYH7 HGNC NCBI

Linked Data

dbSNP Id: rs745681018
ExAC: 14:23901087 ACAGGGGCTTATTGGG / A
gnomAD v2: 14-23901087-ACAGGGGCTTATTGGG-A
gnomAD v4: 14-23431878-ACAGGGGCTTATTGGG-A
MyVariant Identifiers: chr14:g.23901088_23901102del (hg19) chr14:g.23431879_23431893del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23431882_23431896del , CM000676.2:g.23431882_23431896del GRCh38
NC_000014.8:g.23901091_23901105del , CM000676.1:g.23901091_23901105del GRCh37
NC_000014.7:g.22970931_22970945del NCBI36
NG_007884.1:g.8769_8783del , LRG_384:g.8769_8783del

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.531-24_531-10del MANE Select ENSP00000347507.3:n.531-24_531-10del
ENST00000355349.3:c.531-24_531-10del ENSP00000347507.3:n.531-24_531-10del
NM_000257.3:c.531-24_531-10del NP_000248.2:n.531-24_531-10del
XR_245686.3:n.637-24_637-10del
XM_017021340.1:c.531-24_531-10del XP_016876829.1:n.531-24_531-10del
NM_000257.4:c.531-24_531-10del MANE Select NP_000248.2:n.531-24_531-10del
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