Canonical Allele Identifier: CA2123449080
Gene: MYH7 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23421162_23421164delinsCAG , CM000676.2:g.23421162_23421164delinsCAG GRCh38
NC_000014.8:g.23890371_23890373delinsCAG , CM000676.1:g.23890371_23890373delinsCAG GRCh37
NC_000014.7:g.22960211_22960213delinsCAG NCBI36
NG_007884.1:g.19498_19500delinsCTG , LRG_384:g.19498_19500delinsCTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.3246-116_3246-114delinsCTG MANE Select ENSP00000347507.3:n.3246-116_3246-114delinsCTG
ENST00000355349.3:c.3246-116_3246-114delinsCTG ENSP00000347507.3:n.3246-116_3246-114delinsCTG
NM_000257.3:c.3246-116_3246-114delinsCTG NP_000248.2:n.3246-116_3246-114delinsCTG
XR_245686.3:n.3354-116_3354-114delinsCTG
XM_017021340.1:c.3246-116_3246-114delinsCTG XP_016876829.1:n.3246-116_3246-114delinsCTG
NM_000257.4:c.3246-116_3246-114delinsCTG MANE Select NP_000248.2:n.3246-116_3246-114delinsCTG
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