Canonical Allele Identifier: CA7116300
Gene: MYH7 HGNC NCBI

Linked Data

dbSNP Id: rs758924314
ExAC: 14:23891364 G / GGGCA
gnomAD v2: 14-23891364-G-GGGCA
gnomAD v4: 14-23422155-G-GGGCA
MyVariant Identifiers: chr14:g.23891364_23891365insGGCA (hg19) chr14:g.23422155_23422156insGGCA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23422157_23422160dup , CM000676.2:g.23422157_23422160dup GRCh38
NC_000014.8:g.23891366_23891369dup , CM000676.1:g.23891366_23891369dup GRCh37
NC_000014.7:g.22961206_22961209dup NCBI36
NG_007884.1:g.18503_18506dup , LRG_384:g.18503_18506dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.3245+21_3245+24dup MANE Select ENSP00000347507.3:n.3245+21_3245+24dup
ENST00000355349.3:c.3245+21_3245+24dup ENSP00000347507.3:n.3245+21_3245+24dup
NM_000257.3:c.3245+21_3245+24dup NP_000248.2:n.3245+21_3245+24dup
XR_245686.3:n.3351+21_3351+24dup
XM_017021340.1:c.3245+21_3245+24dup XP_016876829.1:n.3245+21_3245+24dup
NM_000257.4:c.3245+21_3245+24dup MANE Select NP_000248.2:n.3245+21_3245+24dup
Search 100 bp 5'
Search 100 bp 3'