Canonical Allele Identifier: CA612937804
Gene: MYH7 HGNC NCBI

Linked Data

dbSNP Id: rs1203128792
gnomAD v2: 14-23898807-C-CCCAGG
gnomAD v3: 14-23429598-C-CCCAGG
gnomAD v4: 14-23429598-C-CCCAGG
MyVariant Identifiers: chr14:g.23898807_23898808insCCAGG (hg19) chr14:g.23429598_23429599insCCAGG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23429599_23429603dup , CM000676.2:g.23429599_23429603dup GRCh38
NC_000014.8:g.23898808_23898812dup , CM000676.1:g.23898808_23898812dup GRCh37
NC_000014.7:g.22968648_22968652dup NCBI36
NG_007884.1:g.11059_11063dup , LRG_384:g.11059_11063dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.1138+172_1138+176dup MANE Select ENSP00000347507.3:n.1138+172_1138+176dup
ENST00000355349.3:c.1138+172_1138+176dup ENSP00000347507.3:n.1138+172_1138+176dup
NM_000257.3:c.1138+172_1138+176dup NP_000248.2:n.1138+172_1138+176dup
XR_245686.3:n.1244+172_1244+176dup
XM_017021340.1:c.1138+172_1138+176dup XP_016876829.1:n.1138+172_1138+176dup
NM_000257.4:c.1138+172_1138+176dup MANE Select NP_000248.2:n.1138+172_1138+176dup
Search 100 bp 5'
Search 100 bp 3'