Canonical Allele Identifier: CA389034765
Gene: MYH7 HGNC NCBI

Linked Data

dbSNP Id: rs1429911046
gnomAD v2: 14-23883164-G-GA
gnomAD v3: 14-23413955-G-GA
gnomAD v4: 14-23413955-G-GA
MyVariant Identifiers: chr14:g.23883164_23883165insA (hg19) chr14:g.23413955_23413956insA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23413956dup , CM000676.2:g.23413956dup GRCh38
NC_000014.8:g.23883165dup , CM000676.1:g.23883165dup GRCh37
NC_000014.7:g.22953005dup NCBI36
NG_007884.1:g.26706dup , LRG_384:g.26706dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.5655+51dup MANE Select ENSP00000347507.3:n.5655+51dup
ENST00000355349.3:c.5655+51dup ENSP00000347507.3:n.5655+51dup
NM_000257.3:c.5655+51dup NP_000248.2:n.5655+51dup
XM_017021340.1:c.5655+51dup XP_016876829.1:n.5655+51dup
NM_000257.4:c.5655+51dup MANE Select NP_000248.2:n.5655+51dup
Search 100 bp 5'
Search 100 bp 3'